Volume 9, Issue 2 - Barth Syndrome Foundation
Volume 9, Issue 2 - Barth Syndrome Foundation
Volume 9, Issue 2 - Barth Syndrome Foundation
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www.barthsyndrome.org<br />
<strong>Barth</strong> <strong>Syndrome</strong><br />
<strong>Volume</strong> 9, <strong>Issue</strong> 2<br />
Journal<br />
Saving lives through education, advances in treatment, and fi nding a cure for <strong>Barth</strong> syndrome<br />
5 th International Scientific, Medical and Family Conference<br />
Join Us in Celebrating BSF’s 10 th Anniversary!<br />
Change of Location<br />
Inside this <strong>Issue</strong><br />
2010 Conference<br />
Family Sessions..........1/5<br />
BTHS Clinical Data<br />
Meeti ng.....................1/8<br />
Words from our President<br />
...................................2-3<br />
Lett er from Executi ve<br />
Director.........................4<br />
2010 Conference<br />
Sci/Med Sessions..........7<br />
Geneti c Diagnosis of BTHS<br />
Meeti ng........................8<br />
Special Needs Planning<br />
Q & A........................9-10<br />
BSF Family Outreach...10<br />
Science & Research<br />
Corner.....................11-14<br />
NIH Research Initi ati ves<br />
Relevant to BTHS.........15<br />
BTHS Library................16<br />
BSF Development..16-18<br />
Memorials...................20<br />
<strong>Barth</strong> <strong>Syndrome</strong> Trust<br />
(UK & Europe)........22-26<br />
BSF of Canada........27-30<br />
Sibling Spotlight..........31<br />
Our Donors.............32-35<br />
BSF is a proud member<br />
of the National Health Council<br />
Renaissance at SeaWorld, Orlando, Florida<br />
July 26—31, 2010<br />
By Linda Stundis, Executive Director, <strong>Barth</strong> <strong>Syndrome</strong> <strong>Foundation</strong><br />
Family Sessions (for Scientifi c Sessions please see page 7)<br />
As hopefully everyone knows by now, the<br />
location for the 2010 Conference has<br />
been changed from Panama City Beach<br />
to the Renaissance at SeaWorld in Orlando,<br />
Florida.<br />
We were concerned that the uncertainties<br />
associated with the new International Airport<br />
under construction in the previous location could<br />
have resulted in continuing high airfares and<br />
limited fl ight schedules and therefore would have<br />
had a detrimental impact on the ability of many<br />
to attend the Conference. (Cont’d on page 5)<br />
Fall 2009/Winter 2010<br />
Highlights of BTHS Clinical Data Meeting<br />
By Carolyn Spencer, MD, Associate in Cardiologoy, Children’s Hospital Boston; Assistant<br />
Professor in Pediatrics, Harvard Medical School, Boston, MA; Co-Principal Investigator, <strong>Barth</strong><br />
<strong>Syndrome</strong> Medical Database & BioRepository<br />
On September 29, 2009, a meeting was held in Boston, MA among a small group of experts<br />
who had collected clinical data at the 2008 Conference Clinic to discuss these data and<br />
their implications. In attendance were Drs. Richard Kelley, Carolyn Spencer, and Todd<br />
Cade; Dr. Paul Benni who developed the device used at the 2008 clinic to measure muscle<br />
oxygen saturation; and several physicians/researchers from Children’s Hospital, Boston. Also in<br />
attendance were Linda Stundis, BSF Executive Director, Matt Toth, BSF Science Director, and<br />
Kate McCurdy, BSF Board member.<br />
There were several interesting fi ndings from the 2008 data that are helping to shed light on<br />
the symptoms suffered by <strong>Barth</strong> syndrome (BTHS) individuals. Many of the diffi culties faced<br />
by BTHS individuals may be due to the inability of muscle tissue to use its energy-producing<br />
molecules properly, which results in a disruption of the fundamental processes of metabolism that<br />
takes place in the mitochondria. These fi ndings will be the subject of further discussion at BSF’s<br />
Scientifi c and Medical Advisory Board’s meeting in December 2009 and then will be submitted to<br />
an appropriate journal for publication.<br />
(Cont’d on page 8)
<strong>Barth</strong> <strong>Syndrome</strong> <strong>Foundation</strong><br />
Scientific and Medical<br />
Advisory Board<br />
Richard I. Kelley, MD, PhD, Chairman<br />
Division of Metabolism<br />
Kennedy Krieger Institute<br />
Johns Hopkins University<br />
Baltimore, Maryland<br />
Peter G. <strong>Barth</strong>, MD, PhD, Emeritus<br />
Pediatric Neurology (retired)<br />
Emma Children’s Hospital / AMC<br />
Amsterdam, The Netherlands<br />
Barry J. Byrne, MD, PhD<br />
Pediatric Cardiology<br />
Shands Children’s Hospital<br />
University of Florida<br />
Gainesville, Florida<br />
Gerald F. Cox, MD, PhD<br />
Clinical Genetics<br />
Children’s Hospital<br />
Boston, Massachusetts<br />
Clinical Research, Genzyme Corp.<br />
Cambridge, Massachusetts<br />
Iris L. Gonzalez, PhD<br />
Molecular Diagnostics Lab (retired)<br />
A. I. duPont Hospital for Children<br />
Wilmington, Delaware<br />
Miriam L. Greenberg, PhD<br />
Biological Sciences<br />
Wayne State University<br />
Detroit, Michigan<br />
Grant M. Hatch, PhD<br />
Lipid Lipoprotein Research<br />
University of Manitoba<br />
Winnipeg, Canada<br />
Michael Schlame, MD<br />
Cell Biology & Anesthesiology<br />
NYU School of Medicine<br />
New York, New York<br />
Colin G. Steward, FRCP, FRCPCH, PhD<br />
Pediatric Hematology<br />
Bristol Royal Hospital for Children<br />
Bristol, England<br />
Jeffrey A. Towbin, MD<br />
Pediatric Cardiology<br />
Cincinnati Children’s Hospital<br />
Cincinnati, Ohio<br />
Ronald J. A. Wanders, PhD<br />
Genetic Metabolic Diseases<br />
Academic Medical Center<br />
Amsterdam, The Netherlands<br />
Katherine R. McCurdy - ex-officio<br />
Science and Medicine<br />
<strong>Barth</strong> <strong>Syndrome</strong> <strong>Foundation</strong>, Inc.<br />
Matthew J. Toth, PhD - ex-officio<br />
Science Director<br />
<strong>Barth</strong> <strong>Syndrome</strong> <strong>Foundation</strong>, Inc.<br />
Page 2 <strong>Barth</strong> <strong>Syndrome</strong> Journal ~ <strong>Volume</strong> 9, <strong>Issue</strong> 2<br />
Words From Our President<br />
By Valerie (“Shelley”) Bowen, President, <strong>Barth</strong> <strong>Syndrome</strong> <strong>Foundation</strong><br />
Michael J. Bowen, Jr.<br />
December 7, 1986—December 9, 2009<br />
It is customary for me to write an article for the<br />
newsletter. In October 2009, when the original table<br />
of contents and design for this issue were created,<br />
Lynda Sedefian set aside spacing for this article<br />
which would consist of 650 words. For weeks I<br />
struggled to write this letter. At first I attributed the<br />
request of brevity to be the challenge. I have written<br />
so many versions of this letter and then have had<br />
to go back and change it.<br />
The actual basis of this challenge would not be<br />
evident to me until last week. This letter was not<br />
mine to write. Michael died on December 9, 2009.<br />
This was just two days after we celebrated his 23 rd<br />
birthday. This letter was intended to honor the life<br />
of my beloved son.<br />
Michael has gone through so many challenges, but he always met each of them with<br />
bravery. He has beaten the odds so many times and always managed to make every<br />
moment count. In Michael’s far too brief span of days on this Earth he made a difference.<br />
He managed to exceed any expectations his father and I could ever have imagined.<br />
Unlike his brother Evan, Michael lived to be an adult. He experienced the best and worst<br />
life had to offer. Yet even when he encountered challenges he remained positive. Just<br />
weeks before his death Michael and I talked about this. He said “Mom, it isn’t easy being<br />
me. I have to make a conscious effort to stay positive. But, I only have one life to live and<br />
don’t intend to waste any of it feeling sorry for myself.” Michael never indulged in self-pity.<br />
He beat the odds so many times. We have placed the shoes he was wearing when he<br />
was given last rites at the age of 13 months next to the shoes he was wearing at the age<br />
of 23. This serves as a poignant reminder of Michael’s determination.<br />
In the days since his death so many people have said, “I wish I had spent more time with<br />
Michael,” or “I wish I knew him better but the time I did have with him made a difference.”<br />
Michael somehow knew he had a great deal to do and never counted on tomorrow to<br />
accomplish it. He lived in the moment and free from the burden of regret that many<br />
who are decades beyond his years of experience have when reflecting on their life’s<br />
accomplishments. We too wish we had more time with Michael. But even if Michael were<br />
to leave this earth with silver hair it would have been too soon if his death preceded those<br />
who loved him.<br />
Grief is indeed the price we pay when we allow ourselves to love. The depth of our grief<br />
is a reflection of the depth of love we had for Michael. I never allowed myself to ponder a<br />
world without Michael. It would have been a waste of precious time.<br />
Everlasting life starts here and now, right here on this Earth. Every positive difference we<br />
make in the lives of others is renewed for generations to come. The evidence of this truth<br />
unfolds every day in many ways.<br />
Michael’s sister, Alanna, sang the Hollies song He Ain’t Heavy, He’s my Brother during<br />
his memorial service. She broke down in tears as she sang this song. Everyone in<br />
attendance, including myself, wanted to rush to her but we didn’t because we all knew it<br />
was something she had to do. Following the service Alanna said, “I didn’t quit because<br />
Michael would never have let me live it down. He was never a quitter and I wasn’t going to<br />
quit on him.” This truth about my son gave me the strength to write this letter. I would not<br />
be able to write this letter in 650 words or less. But in the end that was not the challenge.<br />
(Cont’d on page 3)
(Cont’d from page 2)<br />
This would be a different letter from any other I had ever written. While it was difficult to<br />
write, it was intended to be my tribute to my son, my hero. He lived his life to the fullest. He<br />
was determined to live his life his own way driven by his own convictions. Michael defied<br />
the odds. In the days since his death I find myself overcome by awe and inspiration of his<br />
character just as I had been so many other times throughout his life. He lived his life fully<br />
and that is what has brought comfort to us in these most difficult days.<br />
I close this article by sharing an essay Michael wrote when he was 15 years of age.<br />
Michael managed to do something I never could. In a few brief paragraphs he captured<br />
the mantra that would define his life and once again leave us all in awe and inspired.<br />
FEAR IS NOT MY OPTION<br />
BY MICHAEL J. BOWEN, JR.<br />
December 7, 1986—December 9, 2009<br />
I am a mortal human being. I have no<br />
special powers to live forever. From<br />
the moment we take our first breath<br />
cells begin to die. I have a rare disorder<br />
called <strong>Barth</strong> syndrome. I refuse to let<br />
the term life-threatening define me.<br />
Life itself is life-threatening.<br />
The greatest of all fears is the fear of death. The irony is death happens to every one<br />
of us. Life will always come to an end. People often fret over how they will die or what<br />
malady will happen to them. Sometimes things happen to us that are out of our control.<br />
We can fear these things or we can be courageous about them.<br />
Some people are afraid of snakes even though they have never encountered a snake.<br />
Some are afraid of bats or other silly things like that. When I was old enough to realize<br />
death: The worst thing that could happen to anyone is going to happen to everyone I<br />
chose not to waste my life by living in fear but moreover to be fearless. Fear paralyzes<br />
where courage sets us free.<br />
I will not waste my time living in fear. I will live my life to the fullest. I will not consider what<br />
will come of me because I am not any different than any other mortal human being. I will<br />
come and I will go, that much has been defined for me. I have been fortunate enough to<br />
draw a first breath that defined the start of my life and I know my last breath will define the<br />
end my life. I choose to make the breaths between my first and last the living years. It is<br />
not my choice about when the first and last breath occur but it is up to me to define how<br />
I live my life with every breath between. Therefore I refuse to allow fear to define how I<br />
live my life.<br />
Michael Bowen visits with Dr. Peter <strong>Barth</strong> in Amsterdam in 1996. During that<br />
visit, it was Dr. <strong>Barth</strong> who told Shelley to go back and find other diagnosed<br />
families because he knew they were out there. That is exactly what she did!<br />
(Photo courtesy of the Bowen Family.)<br />
For all correspondence, including<br />
information, please contact:<br />
<strong>Barth</strong> <strong>Syndrome</strong> <strong>Foundation</strong>, Inc.<br />
675 VFW Parkway #372<br />
Telephone: (671) 469-6769<br />
E-mail: bsfinfo@barthsyndrome.org<br />
Website: www.barthsyndrome.org<br />
Board of Directors<br />
Stephen B. McCurdy, Chairman<br />
Valerie (Shelley) Bowen, President<br />
Randy Buddemeyer, Treasurer<br />
Michaela Damin, Board Member<br />
Stephen Kugelmann, Board Member<br />
Katherine R. McCurdy, Board Member<br />
Susan S. Osnos, Board Member<br />
Marcus E. Sernel, Corporate Secretary<br />
Susan V. Wilkins, Board Member<br />
Linda Stundis, Board Member, ex-officio<br />
Executive Staff<br />
Linda Stundis, Executive Director<br />
Valerie (Shelley) Bowen, President<br />
Matthew J. Toth, PhD, Science Director<br />
Lynda M. Sedefian, Executive Assistant<br />
affiliates<br />
The <strong>Barth</strong> <strong>Syndrome</strong> Trust<br />
(United Kingdom & Europe)<br />
1 The Vikings<br />
Romsey<br />
Hampshire<br />
S051 5RG<br />
United Kingdom<br />
Telephone: +44(0)1794 518785<br />
E-mail: info@barthsyndrome.org.uk<br />
Website: www.barthsyndrome.org.uk<br />
Trustees<br />
Michaela Damin, Chair<br />
Nigel Moore, Trustee<br />
Sonja Schlapak, Trustee<br />
Gemma Wilks, Treasurer<br />
<strong>Barth</strong> <strong>Syndrome</strong> <strong>Foundation</strong> of Canada<br />
1550 Kingston Road, Suite 1429<br />
Pickering, ON L1V 6W9<br />
Canada<br />
Telephone: (905) 426-9126<br />
E-mail: inquiries@barthsyndrome.ca<br />
Website: www.barthsyndrome.ca<br />
Board Members<br />
Lynn Elwood, President<br />
Cathy Ritter, R.N., Vice President<br />
Susan Hone, Secretary<br />
Chris Hope, Treasurer<br />
<strong>Barth</strong> Trust of South Africa<br />
49 Abelia Road<br />
Kloof, Pinetown<br />
3610 Natal<br />
South Africa<br />
Telephone: 082-465-1965<br />
E-mail: jthorpe@barthsyndrome.org<br />
Website: www.barthsyndrome.org/<br />
South_Africa.html<br />
Trustees<br />
Jeannette Thorpe, Chair<br />
Nigel Thorpe, Trustee<br />
Colyn Townsend, Trustee<br />
Carol Jardine, Trustee<br />
<strong>Barth</strong> <strong>Syndrome</strong> Journal ~ <strong>Volume</strong> 9, <strong>Issue</strong>2 Page 3
Hope With a Profound Sense of Urgency<br />
By Linda Stundis, Executive Director, <strong>Barth</strong> <strong>Syndrome</strong> <strong>Foundation</strong><br />
One year ago, I wrote my first <strong>Barth</strong> <strong>Syndrome</strong> <strong>Foundation</strong> journal article entitled, An Extraordinary Community with<br />
a Profound Sense of Urgency. As I write today, so soon after losing Philip, Michael and Jamal, the sense of urgency<br />
is palpable.<br />
The day after Michael died, the BSF Scientific and Medical Advisory Board (SMAB) met in New York City for a long-planned<br />
annual meeting. The timing was powerful. The SMAB members felt the profound sense of urgency, and all agreed that we<br />
must push back the boundaries of science and medicine with unrelenting vigor and purpose in our search for a cure for<br />
<strong>Barth</strong> syndrome (BTHS).<br />
Flying down to Florida after the SMAB meeting, I was rethinking my newsletter article and decided to incorporate two quotes<br />
that I often think of in relation to BSF. The first is by Margaret Mead, who said, Never doubt that a small group of committed<br />
citizens can change the world, indeed, it is the only thing that ever has… Is there anyone who doesn’t think BSF could be<br />
the poster child for this quote?<br />
The second quote is by the founder of Citizens Schools who said, Social change is a team sport. Well, to paraphrase,<br />
changing the world of BTHS is a team sport. We can only be successful if our fight against this disease is a team effort:<br />
families sharing the burden of BTHS with one another, supporting one another at all hours of the day and night, answering<br />
the call when our dedicated researchers need participants for a clinical study, and participating (please, if you are not doing<br />
so already!) in the Medical Database and BioRepository; physicians and scientists working tirelessly to understand BTHS;<br />
our donors, giving time and again, year after year, making all we do possible; our volunteers, ready and willing to help where<br />
and when needed; and of course the staff, who must go above and beyond on a daily basis.<br />
As we approach the 10th anniversary of BSF, which we will celebrate at the International Conference in July 2010, we<br />
are reminded of the tremendous accomplishments of the past nine years. BSF is a tribute to all the families, physicians,<br />
scientists, donors, and volunteers to date who have helped advance our mission, Saving lives through education, advances<br />
in treatment, and finding a cure for <strong>Barth</strong> syndrome.<br />
But our work now is more demanding than ever. One of my favorite poets, Jorge Luis Borges wrote, Hope and fear are<br />
twin faces of the same coin. I did not have the privilege of knowing Philip or Jamal, but I know that Michael was a truly<br />
remarkable young man—knowing fear, but heroically living his life beyond the constraints of fear. Most of us know fear all<br />
too well and struggle mightily with the tension between hope and fear—especially at times like these. But, despite the fear,<br />
and embracing the hope, we all must work harder still and with heightened urgency to ensure that the next decade brings<br />
even greater advances in understanding, treating, and finding a cure for BTHS.<br />
Keeping Hope Alive ... Thoughts from <strong>Barth</strong> Families<br />
...If we were to give up on hope, we’d be giving up on Shelley<br />
right when she needs us the most. I know that she would comfort<br />
everyone who has been where she is today and that she would<br />
exhort the rest of us to grab our kids and hold them close, grab life<br />
and love, laughter and tears and live every minute of it. I include<br />
our special doctors, scientists, extended families, fundraisers,<br />
donors and volunteers in our thoughts because I know that this<br />
loss has touched you too. After all, we would never have such<br />
dedication from you all without love. And without you, we would<br />
have no hope at all. ~ Michaela Damin<br />
...Our <strong>Barth</strong> family has suffered so many losses over the<br />
past eighteen months. We have to find answers and we<br />
have to stop this! We are all going to have to pitch in to do<br />
this. We need to help each other and our boys. I love all<br />
of you and I hope I am able to see all of you at the 2010<br />
Conference in Orlando so we can find more answers together.<br />
There is strength in numbers, we may not be the biggest<br />
group, but we are mighty and a force to be reckoned with.<br />
~ Michelle Telles<br />
Page 4 <strong>Barth</strong> <strong>Syndrome</strong> Journal ~ <strong>Volume</strong> 9, <strong>Issue</strong> 2<br />
...A few years ago, my husband, Mike, and I were at a medical<br />
conference manning the BSF booth. Dr. Barry Byrne came by<br />
our booth with several other doctors with him. He introduced us<br />
all and said to his colleagues, “This group is the SWAT team<br />
of parents.” We all laughed...but he’s right. We have been the<br />
SWAT team of parents—led by our Shelley in every way.... Let’s<br />
not drop back now. Let’s step up even more. ~ Sue Wilkins<br />
...While I am so very sad, I could not agree with you all<br />
more that we must move forward and we must remain<br />
hopeful because the SWAT team still has quite a bit of work<br />
to do for all of our sons and for those yet to even be born.<br />
~ Julie Floyd<br />
...We need to come together now more than ever! Thank<br />
goodness the BSF conference is coming up! However, let’s not<br />
wait till then. Let’s continue our focus with renewed determination<br />
and vigor letting the memories of those who have passed<br />
and the lives of these courageous boys propel us forward...<br />
~ Bryan Drake
5 th International Scientific, Medical and Family Conference<br />
Join Us in Celebrating BSF’s 10 th Anniversary!<br />
(Cont’d from page 1)<br />
Since our Conferences are so important in bringing as many families as possible together for a week, in collecting a volume of<br />
clinical data that is otherwise impossible at one time, and in the ongoing education and sharing of research data, we wanted<br />
to ensure the greatest possible number of attendees. For these reasons, the decision was made to move the location of our<br />
2010 Conference to the Renaissance at SeaWorld located in Orlando, FL.<br />
The BSF 5 th International Conference is a must-attend event for seasoned Conference attendees and new families, physicians,<br />
and researchers alike. Families can consult the world’s leading experts on <strong>Barth</strong> syndrome (BTHS) and meet other families<br />
with BTHS, and researchers can learn about the latest advances in research from around the world.<br />
Currently we have a Planning Committee for the Family Sessions comprised of staff and 29 volunteers to date, and includes<br />
subcommittees for the clinic, logistics, the family track, social events, young adults, and communications. If you are not yet<br />
involved and would like to be, please contact Lynda Sedefian (Lsedefian@barthsyndrome.org).<br />
The complete Conference schedule follows this article, but highlights include:<br />
<strong>Barth</strong> Clinics: Once again BSF will be offering two days of clinics. Families will have the unique opportunity to consult<br />
with the experts in one-on-one meetings to address specific personal concerns. Nowhere else can you find such a coming<br />
together of doctors who have specialized in the various aspects of BTHS. At the same time, critical data will be gathered<br />
for our fight against this disorder.<br />
Family Sessions: The family program will include presentations of the most up-to-date information on BTHS. There will be<br />
updates on research, cardiac and arrhythmia concerns, hematology and clinical manifestations of the syndrome and how to<br />
treat them. Families will have the opportunity to ask questions and participate in smaller age-specific breakout discussions to<br />
discuss everything from birth to adolescence, college and growing up with BTHS. Here you will gain a better understanding<br />
of living with the complex symptoms of BTHS and learn coping mechanisms and strategies from those who know best—the<br />
families themselves. Relationships made at the conferences form a safety net and endure for life.<br />
Affected Individual and Sibling Programs: There will be programs specifically designed for and by the young attendees.<br />
New participants will meet others and form lasting relationships, and experienced attendees will have ample time to strengthen<br />
friendships and form new bonds.<br />
The Renaissance at SeaWorld is in a prime Orlando location across from SeaWorld and adjacent to Discovery Cove. Other<br />
Orlando attractions are minutes away. The Resort has several on-site restaurants, and a floor plan which provides easy<br />
access to guest rooms, meeting rooms, restaurants, and outdoor amenities. More information about the Renaissance is<br />
available on the BSF website www.barthsyndrome.org.<br />
Register now at www.barthsyndrome.org and help us celebrate the 10 th Anniversary of BSF and all the work that has been<br />
done to date to serve and educate our families and the advances in research that are moving us closer to treatment protocols<br />
and a cure!<br />
Please see page 6 for an overview of the Conference, as well as important information on registering with BSF and the<br />
Renaissance at SeaWorld.<br />
<strong>Barth</strong> <strong>Syndrome</strong> Journal ~ <strong>Volume</strong> 9, <strong>Issue</strong>2 Page 5
<strong>Barth</strong> <strong>Syndrome</strong><br />
2010 International Scientific, Medical & Family Conference<br />
Page 6 <strong>Barth</strong> <strong>Syndrome</strong> Journal ~ <strong>Volume</strong> 9, <strong>Issue</strong> 2<br />
Renaissance at SeaWorld<br />
Orlando, FL<br />
July 26–July 31, 2010<br />
MAKE YOUR RESERVATIONS NOW!<br />
A dedicated booking website has been created for this event so you will be able to make your hotel reservations online,<br />
as well as take advantage of any room upgrades, amenities or other services offered by the hotel.<br />
To reserve your hotel room at the Renaissance at SeaWorld via the internet, please click the following link:<br />
https://resweb.passkey.com/Resweb.do?mode=welcome_ei_new&eventID=1482151<br />
To reserve your room by telephone, please call Renaissance at SeaWorld (1-800-266-9432) and reference “<strong>Barth</strong><br />
<strong>Syndrome</strong> Conference” when making your reservation to guarantee the reduced rate (US $115/per night).<br />
In addition to making your hotel reservation, you will need to register for this Conference with the <strong>Barth</strong><br />
<strong>Syndrome</strong> <strong>Foundation</strong> on-line at www.barthsyndrome.org. For assistance or further information, please<br />
contact bsfinfo@barthsyndrome.org.<br />
Science & Medicine Family<br />
July 26, 2010 Welcome Reception<br />
July 27–28, 2010 <strong>Barth</strong> <strong>Syndrome</strong> Clinic<br />
(doctors/physicians involved in BTHS research)<br />
<strong>Barth</strong> <strong>Syndrome</strong> Clinic<br />
July 28, 2010 Physician/Scientist Registration<br />
July 29–30, 2010 Scientific/Medical Sessions<br />
July 29—31, 2010 Family/BTHS Individual/Sibling<br />
Sessions<br />
July 31, 2010 SMAB Meeting Closing Ceremony
Scientific & Medical Session of BSF’s 2010 International Conference<br />
By Matthew J. Toth, PhD, Science Director, <strong>Barth</strong> <strong>Syndrome</strong> <strong>Foundation</strong><br />
The 5 th International Scientific, Medical & Family Conference on <strong>Barth</strong> syndrome being held in July 2010 will continue<br />
its rich tradition of highlighting the progress on understanding this unique mitochondrial disease. The chairs for the<br />
Scientific and Medical session will be four members of the BSF’s International Scientific and Medical Advisory Board:<br />
Dr. Richard I. Kelley, Dr. Barry J. Byrne, Dr. Miriam L. Greenberg, and Dr. Michael Schlame. Twenty-seven speakers will<br />
be revealing the results of their scientific and clinical research, much of which has been facilitated over the years by grants<br />
from the BSF.<br />
These speakers will provide for an intense two-day meeting where almost all the researchers on <strong>Barth</strong> syndrome will be<br />
assembled to hear the latest developments taking place. Importantly, this gathering will also serve to start and to renew<br />
collaborations between researchers and to revitalize the efforts of finding a specific treatment for <strong>Barth</strong> syndrome.<br />
There will also be the usual poster session where other researchers can communicate their work and receive feedback from<br />
the attendees. As with previous Conference Poster Sessions, some travel stipends will be offered particularly for younger<br />
investigators. (See below for Call for Poster Abstracts.)<br />
Scientific & Medical Session Keynote Speaker Announcement<br />
On behalf of the 2010 Science and Medicine Conference Organizing Committee, we are pleased to announce<br />
that Douglas C. Wallace, PhD will be our keynote speaker. Dr. Wallace, one of the world’s leading authorities<br />
on mitochondrial DNA, is Donald Bren Professor of Molecular Medicine and Director of the Center for Molecular<br />
and Mitochondrial Medicine & Genetics at the University of California at Irvine, and is a member of the Scientific<br />
& Medical Advisory Board of the United Mitochondrial Disease <strong>Foundation</strong>. Dr. Wallace was recently elected a<br />
member of the Institute of Medicine (IOM), the health branch of the National Academy of Sciences. He is also a<br />
member of the National Academy of Sciences and the American Association for the Advancement of Science.<br />
Dr. Wallace is one of the earliest pioneers in defining the importance of the mitochondria in human disease. He<br />
describes himself as a “mitochondriac,” and we are very glad he will be able to join us in July 2010.<br />
2010 BSF International Scientific & Medical Conference<br />
Call for Poster Abstracts<br />
The <strong>Barth</strong> <strong>Syndrome</strong> <strong>Foundation</strong> 2010 Scientific and Medical Conference Organizing Committee (COC) invites the<br />
submission of abstracts for poster presentations related to the scientific and/or clinical aspects of <strong>Barth</strong> syndrome. The<br />
deadline for abstract submission is April 15, 2010. All submitted abstracts will be peer-reviewed by the COC. Once<br />
accepted, the submitting author will be expected to present his/her corresponding poster at a specific time during the<br />
Conference.<br />
Details of the submission process are available at www.barthsyndrome.org.<br />
All Conference registrants are encouraged to submit abstract(s)/poster(s) of their work. Relevant posters presented<br />
within the last two years at other scientific/medical conferences may also be invited to be displayed by contacting the<br />
COC with the details.<br />
Travel stipends (up to $800) will be available based on need as well as quality of the poster. Completion of an additional<br />
form (available on our website at www.barthsyndrome.org) is required to apply for this funding, and we particularly<br />
encourage young investigators (including doctoral and post-doctoral attendees) to apply for this feature of the<br />
Conference.<br />
<strong>Barth</strong> <strong>Syndrome</strong> Journal ~ <strong>Volume</strong> 9, <strong>Issue</strong>2 Page 7
Highlights of BTHS Clinical Data Meeting<br />
(Cont’d from page 1)<br />
Another important outcome of this meeting was the need to establish the types of data to be collected at the 2010<br />
Conference Clinic. Please note that in the coming months, several researchers will be asking for volunteers to follow up on<br />
the observations made in 2008 and other clinics (see pgs. 12-13). We hope that as many families as possible will participate.<br />
The information gathered at the Conference clinics provides us with one of the best ways to generate new and specific<br />
therapeutic ideas.<br />
BSF Encourages Collaboration Among US Diagnostic<br />
Laboratories—Highlights of Genetic Diagnosis of BTHS Meeting<br />
By Linda Stundis, Executive Director, <strong>Barth</strong> <strong>Syndrome</strong> <strong>Foundation</strong>, on behalf of Shelley Bowen<br />
It has been one of our long-standing goals to build<br />
relationships among BSF and the diagnostic laboratories<br />
in the US. The three primary genetic labs in the US<br />
working on <strong>Barth</strong> syndrome (BTHS) are Baylor, Harvard, and<br />
A.I. duPont. As you all know, we have had and continue to<br />
have a close working relationship with Dr. Iris Gonzalez and<br />
Susan Kirwin, Senior Research Associate at the A.I. duPont<br />
lab. In addition, Dr. Gonzalez curates our DNA database<br />
while Ms. Kirwin is a BSF research grant recipient.<br />
BSF and the genetic labs have faced challenges in fully<br />
serving the needs of BTHS patients and their families.<br />
Diagnosis is often difficult, and some clinical criteria, such as<br />
3-methylglutaconic aciduria, can give misleadingly negative<br />
results depending upon the testing methodology used. As<br />
a result, Shelley Bowen has long envisioned collaboration<br />
among the major genetic labs testing for BTHS, the <strong>Barth</strong><br />
<strong>Syndrome</strong> Medical Database & BioRepository (BRR), and<br />
BSF families.<br />
Yuxin Fan, MD, PhD, FACMG is the Director of the John<br />
Welsh Cardiovascular Laboratory at Baylor and Birgit Funke,<br />
PhD, FACMG is Instructor in Pathology with BTHS expertise<br />
at the Harvard Laboratory for Molecular Medicine.<br />
Last spring, Shelley met with Dr. Fan in Houston. As a result<br />
of their meeting, Dr. Fan indicated that he was looking<br />
forward to collaborating with the duPont and Harvard labs.<br />
Shelley then contacted Dr. Funke at Harvard who was also<br />
excited about collaborating, and of course Dr. Gonzalez was<br />
on board. Because Boston appeared to be the best location<br />
for the meeting, and because Shelley could not leave Florida<br />
with her son, Michael in the hospital, she asked me to<br />
orchestrate and lead the meeting which was held on October<br />
13, 2009.<br />
In attendance were lab representatives Drs. Fan, Funke,<br />
and Gonzalez; Dr. Richard Kelley, BSF SMAB Chairman; Dr.<br />
Carolyn Spencer, Co-Principal Investigator, <strong>Barth</strong> <strong>Syndrome</strong><br />
Medical Database & BioRepository; Dr. Amy Roberts,<br />
Harvard Medical School Clinical Geneticist and Director,<br />
Cardiovascular Genetics Research Program, Children’s<br />
Page 8 <strong>Barth</strong> <strong>Syndrome</strong> Journal ~ <strong>Volume</strong> 9, <strong>Issue</strong> 2<br />
Hospital, Boston; Linda Stundis, BSF Executive Director,<br />
and Dr. Matt Toth, BSF Science Director. Areas of discussion<br />
included:<br />
•<br />
•<br />
•<br />
•<br />
•<br />
Sharing the results of DNA sequencing with Dr.<br />
Gonzalez for the DNA database;<br />
Following up with doctors treating those confirmed<br />
to have BTHS to encourage the families to enroll the<br />
child in the BRR;<br />
Collaborating with other laboratories to determine<br />
an approach to follow up with those who have been<br />
tested but don't have mutations in the TAZ DNA;<br />
Collaborating with other diagnostic labs to better<br />
identify modifier genes and modifying factors that<br />
may provide a better understanding of the genotype/<br />
phenotype of BTHS; and<br />
Creating a standard protocol for forms to accompany<br />
specimens screened for TAZ mutations.<br />
In addition, it was agreed that when specific criteria are<br />
developed for the BRR to identify "<strong>Barth</strong>-like" patients,<br />
the labs would encourage the doctors treating “<strong>Barth</strong>-like”<br />
patients to recommend that families enroll the “<strong>Barth</strong>-like”<br />
patients in the BRR.<br />
Exciting next steps include drafting recommendations for<br />
lab reports referencing “variations of unknown significance,”<br />
and referencing the BSF website; updating the BSF website<br />
to include contact information for consulting BSF physicians,<br />
and “diagnostic tools” such as follow-up tests and referral<br />
papers; and inviting Drs. Fan and Funke to BSF’s 2010<br />
Conference.<br />
As a result of Shelley’s vision, the relationships built and the<br />
collaborations begun at this meeting are an enormous step<br />
forward in our efforts to better serve BTHS families and to<br />
better understand BTHS.
Special Needs Planning<br />
U.S. Focused Q & A<br />
By Beth Polner Abrahams, Esq., Garden City, New York<br />
CAN YOU ANSWER THESE QUESTIONS CORRECTLY?<br />
Beth Polner Abrahams, Esq., is admitted to practice law in New York State and<br />
concentrates in special needs and estate planning, elder law, and guardianship. Since<br />
1982, Ms. Polner Abrahams’ broad legal background has included Federal and state<br />
litigation on behalf of the disabled and poor on Long Island, New York, advocating for<br />
equal housing opportunity with a nonprofit fair housing agency, Long Island Housing<br />
Services, and Federal and New York State banking law with the FDIC. In 2009,<br />
Ms. Polner Abrahams was presented with an award from the New York State Bar<br />
Association’s Elder Law Section recognizing her pro bono litigation advancing the rights<br />
of the elderly and persons with disabilities.<br />
Special needs planning for a family with a disabled family member may mean<br />
different things depending upon your state of residence. In general, it may<br />
include preparation of wills or trusts to protect a disabled child’s inheritance with<br />
a special needs trust and evaluating future management of an adult disabled child’s<br />
person and property. If your disabled family member lacks sufficient legal capacity to<br />
manage health care decisions and/or financial resources, you may need to be appointed<br />
as legal guardian. What does legal guardianship mean? In different states, it means<br />
different things but see if you understand the basics:<br />
1. When my disabled child turns age 18, I will be able to:<br />
A. Continue to make all health care decisions for him or her<br />
B. Continue to make some of the health care decisions for him or her<br />
C. Make none of the health care decisions<br />
Answer: (C) Make none of the health care decisions<br />
The law presumes every adult age 18 and older is competent to make his or her health care decisions. While your local<br />
physician may continue to permit you to make health care decisions for your adult child, it is not the law. Privacy laws,<br />
such as HIPAA, often bar parents from communicating with health care professionals, particularly in hospitals. If surgery or<br />
emergency care is needed, you may not be permitted to make decisions nor have input if you have not been appointed as<br />
the legal guardian for your adult child.<br />
Before going to court to be appointed as legal guardian, speak with a qualified attorney and appropriate medical or psychology<br />
practitioners to determine if your child’s impairment prevents him or her from signing an advance directive for health care<br />
decisions, called a Health Care Proxy or Health Care Power of Attorney, and financial power of attorney, instead of a legal<br />
guardianship proceeding. There may be different types of legal guardianship proceedings in your state. Some states,<br />
including New York, have more than one type of guardian appointment. One proceeding is based upon a specific diagnosis<br />
of either mental retardation or developmental disability. Another proceeding declares an individual incapacitated rather than<br />
incompetent, without specific diagnosis, based upon whether the disabled individual is able to arrange for their basic needs,<br />
such as food, clothing and shelter, make health care decisions, and manage finances, and that harm will result without a<br />
guardian appointed.<br />
2. I must apply for SSI when my disabled child turns age 18 or the Social Security Administration will make us<br />
wait until my child is over age 21 years and/or out of school:<br />
A. True, because all benefits must be applied for at the age of 18<br />
B. False, the failure to apply between age 18 and 21 does not affect the application process or future benefits from<br />
SSI<br />
C. False, the failure to apply between age 18 and 21 does not affect the application process but might affect future<br />
benefits from SSI or Social Security<br />
(Cont’d on page 10)<br />
<strong>Barth</strong> <strong>Syndrome</strong> Journal ~ <strong>Volume</strong> 9, <strong>Issue</strong>2 Page 9
Special Needs Planning<br />
(Cont’d from page 9)<br />
Answer: (C) False. The failure to apply between age 18 and 21 does not affect the application process but might<br />
affect future benefits from SSI or Social Security.<br />
Generally, most families must wait until their disabled child turns age 18 to apply for SSI (a cash benefit program) through<br />
the Social Security Administration. This is because of parental ‘deeming’—the parents’ income and resources are presumed<br />
available for the child. If you are low income, disabled or retired and have assets less than the Social Security poverty<br />
standard, your disabled child may be eligible for SSI and Medicaid before age 18.<br />
If you do not apply for SSI at age 18 for your child, you may still apply at any time. However, SSI cash benefits may not be<br />
retroactive to age 18. You may also need to establish that disability began before age 22, regardless of when you apply, to<br />
preserve certain Social Security benefits derived from the parents’ work history. It is best to apply for SSI between ages 18<br />
and 21.<br />
3. My family does not have to provide a protected inheritance through a special needs trust for our disabled child<br />
because the federal and state governments will always be there for their needs:<br />
A. True, the government has committed to providing the same level of benefits for our neediest individuals<br />
B. False, state and federal governments expect to cut funding for housing and other programs for all populations in<br />
need of such services<br />
C. Partially false, as programs experience cuts in government funding, you may see the need for private and<br />
voluntary assistance, and special needs trusts are one way to secure the future of your disabled child<br />
Answer: (B) and (C) False and partially false. As programs experience cuts in government funding, these programs<br />
may need to ask for private and voluntary assistance, and special needs trusts are one way to secure the future of<br />
your disabled child.<br />
Gone are the days when the government will fund each and every program for persons with disabilities. Cuts are expected<br />
in housing services and supports for persons with disabilities, and services may also see reversals in growth. Protecting<br />
your loved one’s inheritance with a Special Needs Trust (SNT) provides an important source of funds for your adult child<br />
throughout their life to make up for things the government no longer supports. Special Needs Trusts may be drafted into your<br />
wills, trusts or other documents. Consult with a qualified attorney in your state.<br />
For more information, go to www.bpasntlaw.com.<br />
BSF SouthEast Family Outreach<br />
Nine families were represented at this year’s SouthEast Family Outreach. Also in attendance were Linda Stundis, BSF<br />
Executive Director, Dr. Matt Toth, BSF Science Director, Dr. Paul Fernhoff, Associate Professor of Human Genetics<br />
and Pediatrics, Emory University, and Karlene Coleman, RN, MN, CGC, Senior Associate, Genetic Counselor,<br />
Department of Human Genetics, Emory University School of Medicine. Dr. Fernhoff presented on the unpredictable nature<br />
in the symptoms of genetic metabolic diseases such as BTHS; Ms. Coleman presented on genetic variants and disease<br />
causing mutations; and Dr. Toth presented an update on <strong>Barth</strong> syndrome research.<br />
Dr. Fernhoff presents on the unpredictable nature in symptoms of genetic<br />
metabolic diseases such as BTHS at BSF’s SouthEast Family Outreach.<br />
Page 10 <strong>Barth</strong> <strong>Syndrome</strong> Journal ~ <strong>Volume</strong> 9, <strong>Issue</strong> 2<br />
Karlene Coleman (R) presents on genetic variants and disease causing<br />
mutations. Julie Floyd (L) and families in attendance actively participated.
Science & Research Corner<br />
By Matthew J. Toth, PhD, Science Director, <strong>Barth</strong> <strong>Syndrome</strong> <strong>Foundation</strong><br />
As can be seen in bar graph of Figure 1, the number of relevant scholarly<br />
articles concerning <strong>Barth</strong> syndrome (BTHS) increased dramatically in 2009,<br />
with the final tally still to be reckoned. It is also evident that the number of<br />
publications that acknowledge BSF support (upper portion of bars) has increased,<br />
which is probably the result of the increased number of research grants awarded<br />
by the BSF, and the increased participation in the International Scientific, Medical<br />
& Family Conferences over the past several years. What is truly exciting is that the<br />
author lists of several of the publications appear to have been the result of close<br />
collaboration between the individual researchers, who are often geographically<br />
distant from each other.<br />
Publications<br />
Publications are one aspect that we can use to show scientific progress. Like<br />
unemployment rates in the present economy, this parameter is a “lagging<br />
indicator,” meaning that this type of measurement takes a period of time to<br />
be seen. Another measure of progress is the number of grants awarded by<br />
outside agencies and the number of people interested in applying to our BSF<br />
Research Grant Program. Previously, I reported on the extraordinary number<br />
of NIH grants that have been awarded to BTHS researchers. These indicators<br />
point to a greater interest in BTHS research.<br />
Tafazzin Knockdown Mouse<br />
As previously reported, the tafazzin knockdown mouse has been developed through a contract with TaconicArtemis of<br />
Cologne, Germany. There are currently four laboratories studying the mice. We hope that the data gathered will allow these<br />
and other laboratories to pursue the mysteries of BTHS on a deeper level than can be done now.<br />
(Cont’d on page 12)<br />
Dr. DiMauro Retires from SMAB<br />
By Kate McCurdy, Board Member, <strong>Barth</strong> <strong>Syndrome</strong> <strong>Foundation</strong><br />
(Search terms: <strong>Barth</strong> syndrome, tafazzin,<br />
cardiolipin)<br />
Figure 1: Publications involving BTHS by year<br />
of publication. Note that before 2000 there were<br />
only 11 publications in total. Upper portion of<br />
the bars refer to BSF acknowledgement.<br />
Salvatore DiMauro, MD, known as Billi, retired from BSF’s Scientific and Medical Advisory Board<br />
(SMAB) at the end of November when his latest term was finished. He had been a member of<br />
the SMAB since it was first created in the Fall of 2001. We certainly are sorry to see him go, but<br />
we are very grateful for all the advice he has given our organization and the expertise he has so<br />
generously shared with us all.<br />
To summarize some of his credentials for those who may not know him well, Dr. DiMauro is the<br />
Lucy G. Moses Professor of Neurology at Columbia University Medical Center in New York City.<br />
He is known throughout the world as an expert on mitochondria and is frequently sought after as<br />
a keynote speaker for international meetings. In addition, he runs the Laboratory of Molecular<br />
Neurogenetics to help diagnose mitochondrial disorders and metabolic myopathies. His lab has been involved in the<br />
analysis of a number of muscle biopsies from BTHS patients over the years, so many of us are personally indebted to<br />
him and his expertise. Furthermore, Dr. DiMauro has been a wonderful counselor to BSF as we have developed and<br />
evolved both our grant program and the review process with which we evaluate the applications that we receive. He has<br />
offered a long-term perspective that has been invaluable and quiet wisdom that has been essential.<br />
And perhaps most importantly, Dr. DiMauro encouraged Dr. Michael Schlame to become interested in working on BTHS.<br />
In the very beginning when Dr. Schlame needed some specimens in order to conduct his early work on cardiolipin, Dr.<br />
DiMauro gave him some and suggested that he get in contact with BSF for whatever else he needed. That original work<br />
led to a very dedicated, productive and important research effort that continues today.<br />
We certainly will miss Dr. DiMauro, but we all wish him the very best as he begins to wind down his incredibly busy and<br />
successful career in a scientific and medical field that has made a huge difference to many in the world. His association<br />
with BSF has enhanced us all. Thank you very much, Billi; we are extremely grateful for what you have given us.<br />
<strong>Barth</strong> <strong>Syndrome</strong> Journal ~ <strong>Volume</strong> 9, <strong>Issue</strong>2 Page 11
Science & Research Corner<br />
(Cont’d from page 11)<br />
While we wait on the developments from the mouse model of <strong>Barth</strong> syndrome, there are two clinical experimental protocols<br />
that are available for the BSF community to support with their participation. Through his 2008 BSF research grant, Dr. Todd<br />
Cade is recruiting BTHS individuals to follow-up on the observations made at the 2008 Conference Clinic (see below). At the<br />
Clinic, several interesting discoveries were observed. The follow-up experiments require the travel of the BTHS individual<br />
and parent to St. Louis, Missouri and an overnight stay. The subjects also will get compensated $350 for their time and effort.<br />
The other clinical program is the intellectual testing of pre-school BTHS individuals to determine if there are related learning<br />
deficiencies. Dr. Michèle Mazzocco received a 2006 BSF research grant to carry out this testing and performed some of this<br />
work at the 2008 Conference Clinic. Dr. Mazzocco is in need of additional young participants (see page 13).<br />
Project Title: Characterization of Nutrient Metabolism in <strong>Barth</strong> <strong>Syndrome</strong><br />
Research Team:<br />
W. Todd Cade, PT, PhD (Principal Investigator, Washington University)<br />
Dominic Reeds, MD (Co-Investigator, Washington University)<br />
Linda Peterson, MD (Co-Investigator, Washington University)<br />
Melissa Maisenbacher, MS, CGC (Co-Investigator, University of Flordia)<br />
Barry Byrne, MD, PhD (Consultant, University of Florida)<br />
Carolyn Spencer, MD (Consultant, Boston Children’s Hospital)<br />
Sara Hayes, RD (Research Coordinator, Washington University)<br />
Contacts:<br />
Sara Hayes hayess@wustl.edu 314-517-3977<br />
Melissa Maisenbacher maisemk@peds.ufl.edu 352-273-8218<br />
Todd Cade tcade@wustl.edu 314-286-1432<br />
Purpose of study:<br />
The purpose of this pilot study is to collect preliminary data on the role of nutrient (fat, sugar, protein) metabolism in heart<br />
failure in boys with <strong>Barth</strong> syndrome (BTHS). In other words, do boys with <strong>Barth</strong> syndrome metabolize nutrients differently<br />
than those without BTHS and if so, does this contribute to heart failure seen in this condition?<br />
How many subjects are you looking for?<br />
For this pilot study, we are looking for five boys with BTHS, 15 to 30 years old, ideally without ICD’s. We are also looking for<br />
five boys 15 to 30 years old without BTHS. These can be siblings of the boys with BTHS.<br />
What is involved?<br />
The two-day study involved coming to Washington University<br />
located in St. Louis, Missouri and undergoing two nutrient<br />
metabolism tests (lasting 3 and 5 hrs.), a body composition<br />
analysis (30 min.), an echocardiogram (1 hr.), a magnetic<br />
resonance imaging (MRI) scan (1 hr.).<br />
How do I get to St. Louis and who pays for it?<br />
We will pay for the subject’s and one parent’s round trip<br />
flights to St. Louis, transportation to and from the airport to<br />
Washington University and for your hotel room during your<br />
stay. The subjects also will get compensated $350 for their<br />
time and effort.<br />
How do I get more information?<br />
For more information and a consent form that fully describes<br />
the study details, including the risks, please contact Sara<br />
Hayes.<br />
This research is funded by the <strong>Barth</strong> <strong>Syndrome</strong> <strong>Foundation</strong>.<br />
(Cont’d on page 13)<br />
Page 12 <strong>Barth</strong> <strong>Syndrome</strong> Journal ~ <strong>Volume</strong> 9, <strong>Issue</strong> 2<br />
Derek, age 16, while participating in Dr. Cade’s two-day nutrient<br />
metabolism study at the Washington University, St. Louis, MO.<br />
Photo courtesy of BSF ~ 2009.
(Cont’d from page 12)<br />
Project Title: Early Indices of Learning Difficulties in Young Boys with <strong>Barth</strong> <strong>Syndrome</strong><br />
Michèle Mazzocco, PhD, Director<br />
of Math Skills Development<br />
Project, Kennedy Krieger Institute<br />
Although the physical phenotype of <strong>Barth</strong> syndrome (BTHS) is well established, much less<br />
is known about whether BTHS affects the development of cognitive skills and educational<br />
achievement. In 2007, we published a report that showed a slightly lower level of academic<br />
achievement among primary school age boys with BTHS, compared to boys of the same age<br />
and school grade without BTHS (Mazzocco, Henry, & Kelley, 2007). An unresolved question<br />
is whether any academic achievement differences that we observed are linked directly to<br />
BTHS, or are secondary to other characteristics of the syndrome such as fatigue or school<br />
absences associated with frequent illness. To address this question, a study is currently<br />
underway that involves evaluating early academic related skills in boys who have not yet<br />
begun, or only recently begun, formal education.<br />
What is the purpose of this research project?<br />
This project is designed to help understand the development of cognitive and academic skills<br />
in young children. One component of the project involves assessing the level of these skills in<br />
preschool and primary school children with BTHS. We are currently recruiting children who are<br />
3 to 7 years of age, who have not yet completed kindergarten, and who have BTHS.<br />
What does participation entail?<br />
Participation will involve several hours of cognitive testing which will occur over one or two days. The testing includes<br />
measures of pre-reading, mathematics, spatial reasoning, and other problem solving skills. The testing will occur at the<br />
Kennedy Krieger Institute, or elsewhere, depending on your geographic region of residence. There are no direct medical<br />
benefits to joining this study, and you will not be paid for your child to join this study. There is, of course, no charge for any<br />
of this testing.<br />
Who do I contact if I’m interested?<br />
If you desire more information about this project, or if you wish to enroll your child, please contact: Dr. Michèle Mazzocco,<br />
Principal Investigator, (443) 923-4125; mazzocco@kennedykrieger.org, JHU Research Protocol 95-05-26-02. This research<br />
is funded by the <strong>Barth</strong> <strong>Syndrome</strong> <strong>Foundation</strong>.<br />
Articles of Interest:<br />
Mazzocco MM, Henry AE, Kelley RI. <strong>Barth</strong> syndrome is associated with a cognitive phenotype. J Dev Behav Pediatr.<br />
2007 Feb;28(1):22-30.<br />
Mazzocco MM, Kelley RI. Preliminary evidence for a cognitive phenotype in <strong>Barth</strong> syndrome. Am J Med Genet 2001<br />
Sept 1; 102(4):372-378.<br />
Photos courtesy of Amanda Clark ~ 2008<br />
<strong>Barth</strong> <strong>Syndrome</strong> Journal ~ <strong>Volume</strong> 9, <strong>Issue</strong>2 Page 13
BSF Involved in Effort to Create a Global Rare<br />
Disease Registry<br />
By Kate McCurdy, Board Member, <strong>Barth</strong> <strong>Syndrome</strong> <strong>Foundation</strong><br />
The Office of Rare Disease Research (ORDR) at the National Institutes of Health (NIH) is organizing a workshop in January<br />
2010 at which relevant thought leaders will be brought together to discuss the idea of establishing an international<br />
Rare Disease Patient Registry. The objective of the meeting is “to discuss the development of an infrastructure for<br />
an internet-based platform with common data elements utilizing a federated rare disease registry able to incorporate:<br />
1) existing rare disease registries and any other useful patient registries;<br />
2) patient organizations with no registry looking to establish one; and<br />
3) patients with no affiliation with a support group looking to belong to a registry.”<br />
As the result of ORDR’s knowledge of the <strong>Barth</strong> <strong>Syndrome</strong> Medical Database and BioRepository, the NIH invited me, as a<br />
representative of BSF, to be on the planning committee for this workshop. This is wonderful recognition of our collaborative<br />
accomplishments to date. We know that we will all benefit from being included in these discussions and in this exciting,<br />
important effort, and we will certainly report back after the meeting.<br />
NIH Research Initiatives Relevant to <strong>Barth</strong> <strong>Syndrome</strong><br />
In addition to vast investigator-initiated research that is supported by the National Institutes of Health (NIH) in the US, research in some<br />
specific areas is solicited by various NIH institutes from time to time. Applications for these are usually accepted three times a year. The<br />
following ongoing NIH initiatives are particularly relevant to <strong>Barth</strong> syndrome:<br />
Application of Metabolomics for Translational and Biological<br />
Research (R01)<br />
Program Announcement (PA) Number: PA-07-301 (and the R21<br />
version for pilot/exploratory projects: PA-07-302)<br />
Letters of Intent Receipt Date(s): N/A<br />
Expiration Date: January 3, 2010 (now January 8, 2010 per NOT-<br />
OD-07-093)http://grants.nih.gov/grants/guide/pa-files/PA-07-301.<br />
html<br />
Purpose: To promote the application of metabolomic technologies<br />
for translational research in human health and disease to enable/<br />
improve disease detection, diagnosis, risk assessment, prognosis,<br />
and prediction of therapeutic responses.<br />
Chronic Illness Self-Management in Children and<br />
Adolescents (R01)<br />
Program Announcement (PA) Number: PA-07-097 (and the R21<br />
version for pilot/exploratory projects: PA-07-099 and the R03<br />
version for small research grants: PA-07-098)<br />
Letters of Intent Receipt Date(s): N/A<br />
Expiration Date: January 3, 2010 (now January 8, 2010 per NOT-<br />
OD-07-093)http://grants.nih.gov/grants/guide/pa-files/PA-07-097.<br />
html<br />
Purpose: To improve self-management and quality of life in children<br />
and adolescents with chronic illnesses. Children diagnosed with a<br />
chronic illness and their families have a long-term responsibility<br />
for self-management. The child with the chronic illness will have a<br />
life-long responsibility to maintain and promote health and prevent<br />
complications. Research related to biological/technological factors,<br />
as well as sociocultural, environmental, and behavioral mechanisms<br />
that contribute to successful and ongoing self-management of<br />
chronic illnesses in children is also encouraged. This is restricted<br />
to studies of chronic illnesses in children and adolescents ages 8<br />
to 21 grouped by developmental stages according to the discretion<br />
of the investigator.<br />
Page 14 <strong>Barth</strong> <strong>Syndrome</strong> Journal ~ <strong>Volume</strong> 9, <strong>Issue</strong> 2<br />
Diet Composition and Energy Balance (R01)<br />
Program Announcement (PA) Number: PA-07-218<br />
Letters of Intent Receipt Date(s): N/A<br />
Expiration Date: March 6, 2010<br />
http://grants.nih.gov/grants/guide/pa-files/pa-07-218.html<br />
Purpose: To investigate the role of diet composition in energy<br />
balance, including studies in both animals and humans. Both short-<br />
and longer-term studies are encouraged, ranging from basic studies<br />
investigating the impact of micro- or macronutrient composition on<br />
appetite, metabolism, and energy expenditure through clinical studies<br />
evaluating the efficacy of diets differing in micro- or macronutrient<br />
composition, absorption, dietary variety, or energy density for weight<br />
loss or weight maintenance.<br />
NIAMS Small Grant Program For New Investigators (R03)<br />
Program Announcement (PAR) Number: PAR-09-031<br />
Application Receipt/Submission Date(s): October 24, 2011<br />
http://grants.nih.gov/grants/guide/pa-files/PAR-09-031.html<br />
Purpose: The Division of Musculoskeletal Diseases of the NIAMS<br />
supports fundamental research in bone, muscle and connective<br />
tissue biology as well as research aimed at improving the<br />
diagnosis, treatment, and prevention of diseases and injuries of<br />
the musculoskeletal system and its component tissues. Key public<br />
health problems addressed by this research include osteoporosis,<br />
osteoarthritis, orthopaedic disorders and injuries, including<br />
sports medicine and regenerative medicine and the muscular<br />
dystrophies.<br />
This is an RO3 grant program which is designed to help young<br />
invetigators.
Awareness of <strong>Barth</strong> <strong>Syndrome</strong> is Growing Exponentially<br />
There has been a significant increase in <strong>Barth</strong> syndrome related peer-reviewed journal articles published. To date, there have been 47<br />
articles published with the support of BSF and/or BSF affiliate funding (denoted below with an asterick). Listed below are articles relevant<br />
to BTHS that have been added to BSF’s library since the last issue of the <strong>Barth</strong> <strong>Syndrome</strong> Journal. To view the complete bibliography on<br />
<strong>Barth</strong> syndrome, please visit www.barthsyndrome.org.<br />
1. Nie J, Hao X, Chen D, Han X, Chang Z, Shi Y. A Novel Function<br />
of the Human CLS1 in Phosphatidylglycerol Synthesis and<br />
Remodeling. Biochim Biophys Acta. 2009 Dec 15. [Epub ahead<br />
of print]<br />
2. Gebert N, Joshi AS, Kutik S, Becker T, McKenzie M, Li Guan<br />
X, Mooga VP, Stroud DA, Kulkarni G, Wenk MR, Rehling P,<br />
Meisinger C, Ryan MT, Wiedemann N, Greenberg ML, Pfanner<br />
N. Mitochondrial Cardiolipin Involved in Outer-Membrane<br />
Protein Biogenesis: Implications for <strong>Barth</strong> <strong>Syndrome</strong>. Curr<br />
Biol. 2009 Dec 2. [Epub ahead of print]*<br />
3. Hauff KD, Choi SY, Frohman MA, Hatch GM. Cardiolipin<br />
synthesis is required to support human cholesterol<br />
biosynthesis from palmitate upon serum removal in Hela<br />
cells. Can J Physiol Pharmacol. 2009 Oct;87(10):813-20.*<br />
4. Mancuso DJ, Kotzbauer PT, Wozniak DF, Sims HF, Jenkins<br />
CM, Guan S, Han X, Yang K, Sun G, Malik I, Conyers S, Green<br />
KG, Schmidt RE, Gross RW. Genetic ablation of calciumindependent<br />
phospholipase A2{gamma} leads to alterations<br />
in hippocampal cardiolipin content and molecular species<br />
distribution, mitochondrial degeneration, autophagy and<br />
cognitive dysfunction. J Biol Chem. 2009 Oct 19. [Epub ahead<br />
of print]<br />
5. [No authors listed] A new look at Cardiolipin. Biochim Biophys<br />
Acta. 2009 Oct;1788(10):1997-2002.<br />
6. Melloney K. Johns, Meng-Xin Yin, Stuart J. Conway, Diane E. J.<br />
E. Robinson, Leon S.-M. Wong, Rebecca Bamert, Richard E. H.<br />
Wettenhall and Andrew B. Holmes. Synthesis and biological<br />
evaluation of a novel cardiolipin affinity matrix. Org Biomol<br />
Chem. 2009 Sep 21;7(18):3691-7. Epub 2009 Jul 14.<br />
7. Zachman DK, Chicco AJ, McCune SA, Murphy RC, Moore<br />
RL, Sparagna GC. The role of calcium-independent<br />
phospholipase A2 in cardiolipin remodeling in the<br />
spontaneously hypertensive heart failure rat heart. J Lipid<br />
Res. 2009 Sep 9. [Epub ahead of print] *<br />
8. Taylor WA, Hatch GM. Identification of the human<br />
mitochondrial linoleoyl-coenzyme a monolysocardiolipin<br />
acyltransferase (MLCL AT-1). J Biol Chem. 2009 Sep 8. [Epub<br />
ahead of print]*<br />
9. Xu Y, Zhang S, Malhotra A, Edelman-Novemsky I, Ma J, Kruppa<br />
A, Cernicica C, Blais S, Neubert TA, Ren M, Schlame M.<br />
Characterization of tafazzin splice variants from humans<br />
and fruit flies. J Biol Chem. 2009 Aug 21. [Epub ahead of print] *<br />
10. Sorice M, Manganelli V, Matarrese P, Tinari A, Misasi R, Malorni<br />
W, Garofalo T. Cardiolipin-enriched raft-like microdomains<br />
are essential activating platforms for apoptotic signals on<br />
mitochondria. FEBS Lett. 2009 Aug 6;583(15):2447-50. Epub<br />
2009.<br />
11. Rijken PJ, Houtkooper RH, Akbari H, Brouwers JF, Koorengevel<br />
MC, de Kruijff B, Frentzen M, Vaz FM, de Kroon AI. Cardiolipin<br />
molecular species with shorter acyl chains accumulate in<br />
S. cerevisiae mutants lacking the acyl-Coenzyme A-binding<br />
protein Acb1p. New insights into acyl chain remodeling of<br />
cardiolipin. J Biol Chem. 2009 Aug 5. [Epub ahead of print]*<br />
12. Hastings R, Steward C, Tsai-Goodman B, Newbury-Ecob R.<br />
Dysmorphology of <strong>Barth</strong> syndrome. Clin Dysmorphol. 2009<br />
Jul 30. [Epub ahead of print]*<br />
13. Houtkooper RH, Turkenburg M, Poll-The BT, Karall D, Pérez-<br />
Cerdá C, Morrone A, Malvagia S, Wanders RJ, Kulik W, Vaz FM.<br />
The enigmatic role of tafazzin in cardiolipin metabolism.<br />
Biochim Biophys Acta. 2009 Jul 18. [Epub ahead of print]*<br />
14. Shah KB, Duda MK, O’Shea KM, Sparagna GC, Chess DJ,<br />
Khairallah RJ, Robillard-Frayne I, Xu W, Murphy RC, Des Rosiers<br />
C, Stanley WC. The Cardioprotective Effects of Fish Oil<br />
During Pressure Overload Are Blocked by High Fat Intake.<br />
Role Of Cardiac Phospholipid Remodeling. Hypertension.<br />
2009 Jul 13. [Epub ahead of print]<br />
15. Mitchell RW, Hatch GM. Regulation of cardiolipin biosynthesis<br />
by fatty acid transport Protein-1 IN HEK 293 Cells. Biochim<br />
Biophys Acta. 2009 Jun 10. [Epub ahead of print]<br />
16. Pass KA, Thoene J, Watson MS. Emergency preparedness for<br />
newborn screening and genetic services. Genet Med. 2009<br />
Jun;11(6):455-64.<br />
17. Storch EA, Keeley M, Merlo LJ, St. Amant JB, Jacob M, Storch<br />
J, Spencer C, Byrne BB. Psychosocial Functioning in Youth<br />
With <strong>Barth</strong> <strong>Syndrome</strong>. Children’s Health Care, <strong>Volume</strong> 38,<br />
<strong>Issue</strong> 2 April 2009, pp. 137-156.*<br />
18. Cortez-Dias N, Varela MG, Sargento L, Brito D, Almeida A,<br />
Cerqueira R, Lança V, Fernandes AR, Tavares P, Pereira RA,<br />
Fernandes A, Madeira H. Left ventricular non-compaction: a<br />
new mutation predisposing to reverse remodeling? Rev Port<br />
Cardiol. 2009 Feb;28(2):185-94.<br />
19. Osman C, Haag M, Potting C, Rodenfels J, Dip PV, Wieland FT,<br />
Brügger B, Westermann B, Langer T. The genetic interactome<br />
of prohibitins: coordinated control of cardiolipin and<br />
phosphatidylethanolamine by conserved regulators in<br />
mitochondria. J Cell Biol. 2009 Feb 23;184(4):583-96. Epub<br />
2009 Feb 16.<br />
20. Zick M, Rabl R, Reichert AS. Cristae formation-linking<br />
ultrastructure and function of mitochondria. Biochim Biophys<br />
Acta. 2009 Jan;1793(1):5-19. Epub 2008 Jun 20. Review.<br />
21. Ichida F. Left ventricular noncompaction. Circ J. 2009<br />
Jan;73(1):19-26. Epub 2008 Dec 4. Review.<br />
22. Tatu-Chitoiu A, Bradisteanu S. A rare case of biventricular<br />
non-compaction associated with ventricular septal defect<br />
and descendent aortic stenosis in a young man. Eur J<br />
Echocardiogr. 2008 Mar;9(2):306-8.<br />
Patents and Patent Applications<br />
1. Peter Wipf, Jingbo Xiao, Mitchell P. Fink, Valerian E. Kagan,<br />
Yulia Y Tyurina. Selective targeting agents for mitochondria.<br />
US Patent <strong>Issue</strong>d: May 5, 2009. (Patent Abstract)<br />
2. Genevieve C. Sparagna, Adam J. Chicco, Russell L. Moore,<br />
Sylvia A. McCune. Use Of Linoleic Compounds Against Heart<br />
Failure. Pubication Date: Dec. 25, 2008. (Patent Application)<br />
<strong>Barth</strong> <strong>Syndrome</strong> Journal ~ <strong>Volume</strong> 9, <strong>Issue</strong>2 Page 15
<strong>Barth</strong> <strong>Syndrome</strong> <strong>Foundation</strong><br />
Gives Thanks to Our Loyal Supporters<br />
By Stephen B. McCurdy, Chairman, Board of Directors, <strong>Barth</strong> <strong>Syndrome</strong> <strong>Foundation</strong><br />
For almost a decade, the <strong>Barth</strong> <strong>Syndrome</strong> <strong>Foundation</strong> (BSF) has looked to our friends and families to make the donations<br />
that fund our programs. “Nothing unusual in that” you say, and you would be right, but for a few small facts that put<br />
our longevity and accomplishments into perspective. There are fewer than 150 families who are directly affected by<br />
<strong>Barth</strong> syndrome (BTHS) and who have joined BSF or one of its international affiliates (many more are unknowingly affected<br />
or have yet to contact BSF). Only 150 families from around the world, most of whom live 50 or 100 miles or more from the<br />
next nearest <strong>Barth</strong> family. That means that fund raising is a very personal affair. Each family must be willing to approach<br />
its own circle of friends and colleagues to ask each one of them to contribute to BSF. It’s not easy to ask people for money.<br />
And yet, since BSF was founded in 2001, our families and friends have come through for us, contributing their hard earned<br />
funds to make our progress possible.<br />
Our families and friends have not just “come through” but done so in a way that continues to be extremely unusual for any<br />
disorder as rare as BTHS. You, our families and friends, have made donations sufficient to support a BSF annual budget that<br />
has grown from $6,000 in its first full year to over $1 Million in 2008. BSF has funded over $1.5 Million in research grants<br />
of $40,000 or less, and have created a “bank” to record medical data on affected people and preserve samples of DNA,<br />
blood and tissue to support research. We have held four International Conferences attracting scientists, physicians and<br />
families from around the world. We attend scientific conferences to increase awareness and publish pamphlets, brochures,<br />
newsletters and maintain the most up-to-date website of information on BTHS to better inform physicians, families and the<br />
general public. We now have four professional full-time staff members who form the backbone of our programs.<br />
(Photo #1) Michelle runs in honor of her<br />
beloved son, Michael, who passed away<br />
in April 2009. Her youngest son proudly<br />
supports her efforts!<br />
(Photo #2) This photo of Michael inspired<br />
Michelle to continue her determination to<br />
raise awareness and funds for BSF.<br />
Page 16 <strong>Barth</strong> <strong>Syndrome</strong> Journal ~ <strong>Volume</strong> 9, <strong>Issue</strong> 2<br />
All this, surrounding and supported by a core of fewer than 150 families around the<br />
world. We are few, but we are determined and focused. And we have the best and<br />
most supportive friends in the world! The families of BSF are firm in our pledge to<br />
‘never give up’ in our search for a cure and our care for those who may be affected,<br />
and we are grateful for the continued support of you, our friends, who match our<br />
determination with your donations… year after year.<br />
Here are some of the <strong>Barth</strong> families and friends who have been most actively<br />
engaged in raising money for BSF in 2009.<br />
Running for Michael<br />
Michelle Telles has been raising money in honor of her son, Michael, who passed<br />
away in April of this year. After Michael’s death, Michelle began to run and asked<br />
friends to contribute to BSF for each mile she ran. To date she has recruited a team<br />
of 18 sponsors and has now begun to run in honor of Michael Bowen as well and is<br />
asking people to donate for each mile she runs for both Michaels. (Photos #1 & 2)<br />
NorthEast Family Gathering<br />
The Dunn Family in cooperation<br />
with the Monahan Family, used the<br />
Northeast Family Gathering as a<br />
fundraising event. Any gathering<br />
of <strong>Barth</strong> families can become an<br />
effective time to raise both funds<br />
and awareness as the Dunns have<br />
proven for several years now. Friends<br />
and family were present at this year’s<br />
event. Entertainment was provided<br />
by the Becky Chace Band. Funds<br />
were raised, fun was had by all, and<br />
awareness of <strong>Barth</strong> syndrome was<br />
once again heightened within their<br />
community. (Photo #3)<br />
Becky Chase performs at the Dunn’s NorthEast<br />
Gathering in support of BSF. (Photo #3)<br />
(Cont’d on page 17)
(Cont’d from page 16)<br />
(L-R) Steve Buddemeyer, along with Randy’s three sons<br />
(ages 15, 20, 17) and Randy are ready to tee off to support BSF at the<br />
4 th Annual <strong>Barth</strong>/JDRF Charity Golf Tournament. (Photo #1)<br />
Dr. Robert Sutphin from Arnold Palmer Hospital and the Kugelmann’s<br />
11 year old son prepare to greet the helicopter for the ‘Ball Drop’ at the<br />
6 th Annual Charity Golf Tournament raising funds for BSF. (Photo #2)<br />
Friends of the Higgins come out and bowl to support BSF. (Photo #3)<br />
CB Richard Ellis Fourth Annual Charity Golf Tournament<br />
Fellow Floridians, Randy and Leslie Buddemeyer have<br />
adopted the golf tournament approach. On October 5, 2009,<br />
Randy’s firm, CB Richard Ellis sponsored its Fourth Annual<br />
Golf Tournament to raise funds for BSF and the Juvenile<br />
Diabetes Research <strong>Foundation</strong> at the Emerald Greens Golf and<br />
Country Club in Tampa, Florida. CBRE and its many business<br />
partners have become enthusiastic supporters of these two<br />
causes, made more personal by the appearance of Randy’s<br />
son, now 20, who was diagnosed with BTHS at the age of 14.<br />
(Photo #1)<br />
“Driving for a Cure” 6th Annual Charity Golf Outing<br />
For the sixth year, fellow Floridians Jan and Steve Kugelmann<br />
organized and ran their “Driving for a Cure” Charity Golf Outing<br />
held at the Savannahs Golf Course in Merritt Island, Florida.<br />
On October 11, 2009 over 200 golfers, volunteers and other<br />
supporters were focusing on one thing—a firm belief that they<br />
were making a difference in the lives of those affected by BTHS.<br />
Every year, Jan and Steve get calls from supporters who ask<br />
when the BSF Tournament will be, so avid are they to “Drive for<br />
a Cure”… and every year, these golfers compete for “longest<br />
drive” and “closest to the pin” honors, and the Kugelmann’s<br />
11 year old son who has BTHS draws the name of the lucky<br />
winner of the 50/50 raffle, all the while supporting BSF.<br />
(Photo #2)<br />
6 th Annual Bowling Fundraiser<br />
The Higgins Family held their 6 th Annual Bowling Fundraiser<br />
on October 17, 2009 in Warwick, NY to the delight of some 50<br />
friends and family. This event has become a must-attend for<br />
the loyal supporters in the Warwick area and draws some from<br />
miles away as well. (Photo #3)<br />
Lakefront Marathon<br />
Cherie Schrader is a veteran runner and an Aunt of Lattigo<br />
Cook, one of our <strong>Barth</strong> boys who passed away in 2002. In<br />
2003, Cherie ran the Chicago Marathon in honor of Lattigo<br />
and has been racing and raising money for BSF ever since,<br />
most recently running in the Lakefront Marathon in Milwaukee,<br />
WI on October 4, 2009. A professional photographer, Cherie<br />
will be attending the 2010 <strong>Barth</strong> Conference to take photos<br />
throughout the event. (Photo #4)<br />
(Cont’d on page 18)<br />
Cherie Schrader (L) continues to run in a number of marathons in<br />
honor of Lattigo (R) and in support of BSF. (Photo #4)<br />
<strong>Barth</strong> <strong>Syndrome</strong> Journal ~ <strong>Volume</strong> 9, <strong>Issue</strong>2 Page 17
<strong>Barth</strong> <strong>Syndrome</strong> <strong>Foundation</strong><br />
Gives Thanks to Our Loyal Supporters<br />
(Cont’d from page 18)<br />
Baking for <strong>Barth</strong><br />
Rosemary Baffa and friends used their creative baking skills and hosted the ‘Baking for <strong>Barth</strong>’ fundraiser in the fall of 2009.<br />
Donations are still in process.<br />
Pampered Chef Fundraiser<br />
Angela Calhoun used her cooking skills to raise money for BSF in 2009. Angie is a Pampered Chef consultant.<br />
Team Will—Ford Ironman Arizona<br />
Gary Rodbell, a friend of the McCurdys and BSF’s “Ironman” has been an exceptionally<br />
strong friend of BSF. He and Matt Karp, Heather Segal, Ghent Lummis and Paul Epstein<br />
entered the Ironman competition in Tempe, Arizona on November 22, 2009, and through<br />
their fund raising, combined<br />
with the McCurdys, raised<br />
enough to win the Janus<br />
Charity Challenge and an<br />
additional award for BSF.<br />
“Team Will,” led by Gary,<br />
has now raised just under<br />
$1 Million for BSF over<br />
several years.<br />
(L-R) Team Will members Heather Segal, Paul Epstein,<br />
Ghent Lummis, and Gary Rodbell...BSF’s Ironmen!<br />
Annual Appeals<br />
Kate and Steve McCurdy use a postal approach, sending a personal letter updating their friends on their 23 year old son<br />
who has BTHS, the achievements of BSF and making a personal appeal to support the foundation that means so much to<br />
them. Some of their donors have been giving regularly for nine years and more are added to the list every year.<br />
Sue and Mike Wilkins are also using the US Post Office, sending a personal annual appeal to update their friends and<br />
business associates on their 27 year old son who has BTHS and asking their friends and business associates to support<br />
BSF. Many of their donors have also been giving regularly in support of the Paula & Woody Varner Fund which has been set<br />
up to support BSF’s scientific and medical initiatives.<br />
Marc and Tracy Sernel are also using the US Post Office, updating their friends and business associates on their four year<br />
old son who has BTHS, asking for them to support BSF.<br />
Annual Giving<br />
BSF Affiliates<br />
Our BSF Affiliate in the UK, the <strong>Barth</strong> <strong>Syndrome</strong> Trust, led by Michaela Damin, have agreed to donate $40,000 to BSF in<br />
support of research and to help transport European scientists to the next International <strong>Barth</strong> Conference in July of 2010.<br />
Network for Good / Facebook<br />
A number of donors are giving monthly using their credit card via Network for Good in the US or the BSF Group on Facebook.<br />
This is a simple way to contribute a smaller amount regularly that can be managed in a monthly budget.<br />
Matching Gifts<br />
Another important source of contributions is company matching funds. Each year, many of BSF’s donors who work for<br />
companies who offer gift matching programs double their donations by asking their employer to match their donations.<br />
Scott Oldewage is one of these and his employer, Ed Pace, owner of Lake City Leasing, matches Scott’s donations dollar<br />
for dollar. Ed goes further for BSF by donating an additional $500/month for each month his company is profitable. Ed is an<br />
important member of the BSF family.<br />
Page 18 <strong>Barth</strong> <strong>Syndrome</strong> Journal ~ <strong>Volume</strong> 9, <strong>Issue</strong> 2<br />
Team Captain Gary Rodbell
Abram, Age 2<br />
Kansas, USA<br />
Donate On-Line:<br />
You may donate to BSF or any of the international affiliates by going to our website, www.barthsyndrome.org, and<br />
clicking on the ‘Support BSF’ link on our home page, or through Network for Good (www.NetworkforGood.com) where<br />
donors search for BSF by name.<br />
Donate through Causes on Facebook:<br />
To date, BSF has 1,680 members on Causes on Facebook. Join us on our on-line social network (http://apps.facebook.<br />
com/causes/46297/15341902).<br />
Employer Matching Gift Programs:<br />
Many donors are now taking advantage of a “Matching Gift Program” offered by their employer. The employer matches<br />
the funds donated by the employee to a charity and provides a convenient method for the employee to donate to a<br />
charity of his/her choice.<br />
Planned Giving:<br />
One of the best ways to support our continued efforts is to remember BSF (or its affiliates) in your estate planning. Talk<br />
to your lawyer or estate planning professional about including BSF (or its affiliates) in your will.<br />
BSF is an accredited member of BBB<br />
In the past, the Post Office notified us of address changes. However, with so few actual mail pieces<br />
being sent during the year, we will not know you have moved unless you tell us. If your telephone<br />
number and/or e-mail address has changed, please let us know. If we do not have your e-mail<br />
address, please go online to add it to your contact information.<br />
<strong>Barth</strong> families, if you think any information on your family might be incorrect, please be sure to update<br />
us.<br />
Visit BSF’s website and complete the ‘Update Contact Information’ form (http://www.barthsyndrome.<br />
org/english/View.asp?x=1568) that can be found under ‘Families/Update Contact Information.’<br />
Thanks in advance for helping us “keep house.”<br />
Donations Made Easier<br />
Donate via Check:<br />
You may donate to BSF via check. BSF’s headquarters is<br />
located at the following address:<br />
<strong>Barth</strong> <strong>Syndrome</strong> <strong>Foundation</strong><br />
675 VFW Parkway #372<br />
Chestnut Hill, MA 02467<br />
Attn: Linda Stundis, Executive Director<br />
Have You Moved Lately?<br />
Please Help Us Keep Your Information Current<br />
Jeremiah, Age 11<br />
Maryland, USA<br />
<strong>Barth</strong> <strong>Syndrome</strong> Journal ~ <strong>Volume</strong> 9, <strong>Issue</strong>2 Page 19
In Loving Memory of Jamal Thomas<br />
Jamal Thomas<br />
August 23, 1984—December 23, 2009<br />
Page 20 <strong>Barth</strong> <strong>Syndrome</strong> Journal ~ <strong>Volume</strong> 9, <strong>Issue</strong> 2<br />
THE LIFE AND TIMES OF MAL<br />
BY JAMAL THOMAS<br />
August 23, 1984—December 23, 2009<br />
These slightly modified journal entires were read at Jamal’s funeral service:<br />
Part 1: Join me as I let y’all know about my life. Everything I am about to tell y’all<br />
is true and real. I be the boy Mal from South Philly. I am 24 years old and I will<br />
be turnin’ 25 on August 23, 2009. I been dealin’ wit a lot in my 24 years of life.<br />
I was born wit a heart disorder called <strong>Barth</strong> syndrome. It is a very uncommon<br />
health problem. Only boys can get this problem and some females carry the<br />
gene. There’s a lot of other kids wit this heart problem. I was hospitalized at<br />
Thomas Jefferson on September 24, 2008 due to this heart disorder that I have.<br />
Everything was looking good for me and I was feeling better. I was getting back<br />
to myself. Then on September 28, 2008 things took a turn for the worst. I went<br />
into v tach, passed out and my heart had stopped. I flat lined. I kept going into<br />
v tach. It happened about 4 times back to back. I passed away all 4 times. I saw Heaven and God but the last time they<br />
brought me back. I was in a coma for about three days. After I came out of the coma, I had all types of things that I was<br />
hooked up to. One thing for sure, my family was right there by my side and I know God was watching over me the whole<br />
time. I know it was not my time to go home. God kept me here for a reason and I thank God every day for that. I had to take<br />
time out for me to really get my health back on the right track. I always had time for God but I needed to take more time out<br />
and the things we talk about. I am so hyped right now ‘cause God has a lot of blessings in store for me and I can’t wait until<br />
that day. God blesses me every day just by letting me stay on this earth for 24 years and a lot more. One day in the summer<br />
of 2008, the summer was about to end and that’s when the s.p.b. name started to pop over. We really get made love in our<br />
hood (South Philly). It’s only two of us s.p.b. (myself and my big brother Byrd). I know y’all want to know what s.p.b. means.<br />
The meaning is self-proclaimed brother. Everything I just told y’all, that’s the life of Mal and I will live my life to there’s no<br />
more air in my body. It’s 09 baby and the self-proclaimed brothers ain’t stoppin’. I just want to take this time out to show love<br />
to everyone I lost in my life over the years. R.I.P. grandmom, aunt Mande, Jamil aka lil Grant, aunt D, Mr. DeWhite and many<br />
more of my homies I lost to the street life. I just want to let y’all know there is more of the life of Mal comin’ real soon. It will<br />
not be a long wait. I can tell you that for sure. I’ll get at y’all s.p.b. himself is lettin’ everybody know.<br />
Part 2: The self-proclaimed brother, Mal, is back wit Part 2 of the life of Mal. I gave ya’ll part of Mal not too long ago as I told<br />
y’all about my heart disorder that I lived with for 24 years. Thanks to God and all my loved ones. On June 16, 2009, I was<br />
doing everything I do everyday, living my life, I was feeling good all that day then that night I was in the house talking to my<br />
family and then I just started getting’ real short of breath and it was hard to get air out and my heart was beating really fast<br />
and I felt light headed so I had hooked myself up to my oxygen that I had in the house that I use from time to time if I need<br />
it. I was hooked up to that for a couple of minutes and it was not working so my mom called 911. Once the EMT’s got to my<br />
house they did what they had to do and I started feeling a little better but they said I had to go to the hospital to be looked<br />
over and make sure everything was okay. They brought me to the ER at Jefferson. I was in the ER for a couple of hours.<br />
They did all the tests and other things and that’s when I found out I have asthma like I need something else to deal wit. A selfproclaimed<br />
brother, Mal, is a fighter. I don’t give up ‘cause I know God will not give up on me, not now and He never will.<br />
Photos of candles lit by <strong>Barth</strong> families from around the world in memory of Jamal.
In Loving Memory of Philip Brown<br />
Philip Brown<br />
May 22, 2005—September 29, 2009<br />
The tribute below is taken from words spoken at Philip’s funeral.<br />
Philip was born in Harrogate to his parents Maike and Alan on 22 May 2005,<br />
with <strong>Barth</strong> syndrome.<br />
In June of this year, his heart function was declining so he was admitted<br />
to the Freeman Hospital in Newcastle in readiness for a possible heart<br />
transplant. Philip waited seven weeks for a donor and took this experience in<br />
his stride, never once complaining—in fact at one point his father asked him<br />
if he was looking forward to coming home when he was better and he replied<br />
emphatically, “No, I like it here!”<br />
On 15 August a suitable donor was found and Philip’s transplant took place.<br />
The operation went well, but four weeks later with hopes high and on the brink<br />
of being discharged, he began to decline again and a few days later suffered<br />
a cardiac arrest. For the last 13 days of life, Philip was heavily sedated on an ECMO artificial heart machine, his only hope<br />
being a second donated heart, but a suitable one was not found in time.<br />
Philip was not particularly interested in conventional children's toys. He was more interested in elemental things like fire,<br />
water and wind. His old Victorian house had open fire places and he much enjoyed helping his father make a fire in winter.<br />
He also enjoyed holding a smouldering incense stick near the fireplace, when there was no fire, and watching the air currents<br />
carry the smoke up into the chimney. In fact, such was his interest in fire that his parents were slightly concerned that his<br />
chosen future career path might be arson! Waterfalls in the countryside and ornamental fountains in parks and shopping<br />
malls also captivated him and one of his favourite DVDs was a documentary about floods, hurricanes and tornadoes.<br />
Philip liked Captain Jack Sparrow of the 'Pirates of the Caribbean' films—the gory bits did not bother him—and also Robin<br />
Hood. The hospital nurses sometimes had a hard time of it. If Philip was not waving his Jack Sparrow sword at them then<br />
he was either shooting them with a bow and arrow or he was a dragon, roaring fiercely and brandishing his sharp claws.<br />
At nursery school he found physical things a bit difficult, because of his weak muscle tone. However, he did enjoy PE, and<br />
learnt how to do the 'Hokey Cokey’ (which he liked to demonstrate to people).<br />
He got pleasure from baking, both with his mother and also at nursery. While in hospital, Philip and the nurses prepared a<br />
fresh pizza and took it down to the main hospital kitchens. The head chef came out dressed in his full regalia and offered to<br />
bake it for him, and Philip was greatly impressed. The pizza was duly baked, and shortly afterwards returned to him on the<br />
ward food trolley.<br />
Philip’s favourite joke was to ask someone, “What do you call a deer with no eyes?”. When the reply was, “I don’t know,” he<br />
would exclaim with gusto that the answer was “no-eyed deer.” We are not sure if he ever really understood his joke, but it<br />
pleased him to see the laughter that it produced in the person to whom it was told.<br />
Fond memories from Claire Clements, Philip’s child minder:<br />
‘Philip was such a bright child in every sense of the word. He had a real thirst for knowledge which generated a seemingly<br />
endless supply of questions! His extensive and very expressive vocabulary amazed us all. Philip would sometimes use<br />
German words and was always surprised that I didn’t understand, and would do his best to explain. His infectious cheeky<br />
smile, delightful sense of humour, and general enthusiasm made him a great person to be with, whatever your age, and<br />
earned him the nick name ‘Smiler’ from the older children.<br />
Philip had a great imagination and loved to dress up and pretend to be different characters. We had a very memorable visit<br />
to the Chevin (our local wooded hillside) reliving ‘The Gruffalo,’ and Philip was so excited to be ‘climbing trees’ and hiding in<br />
the woods. At Philip’s instigation, we would all sit under the dining room table and read stories in the dark by torchlight!<br />
It has been a privilege to know Philip. We miss him so much, but the sadness is accompanied by so many fantastic,<br />
happy memories and photographs that we will never forget him.<br />
There never has been and never will be anyone in the world quite like Philip.<br />
<strong>Barth</strong> <strong>Syndrome</strong> Journal ~ <strong>Volume</strong> 9, <strong>Issue</strong>2 Page 21
<strong>Barth</strong> <strong>Syndrome</strong> Trust<br />
By Michaela Damin, Chair, <strong>Barth</strong> <strong>Syndrome</strong> Trust (UK & Europe)<br />
IN OUR HEARTS ALWAYS<br />
When faced with the loss of our children, all else seems to fade into insignificance. As I sit here writing about what<br />
we’ve done in the past few months, my only wish is that we could somehow turn back the clock and trade it all in.<br />
Exchange the successes and achievements and, in return, restore boys like Michael Telles, Philip Brown, Michael<br />
Bowen, Jamal Thomas, and all the other, equally beloved boys back to their families and thus back into our wider family.<br />
We all work so hard and we strive to remain strong in the face of adversity. Why? We fight for the privilege of holding our<br />
children safe in our arms until we start to see the men they will be tomorrow in the boys they are today. As they grow up, the<br />
ties of the body become the ties of the heart.<br />
We have had to say goodbye to some of our boys far too soon and, as a community, we have grieved with their families and<br />
we have been awed by their strength, their depth of feeling and their humanity. We will hold your sons in our hearts, always.<br />
The gift of joy they brought us all outweighs the grief they left behind. We are honoured to have known them.<br />
Update of Activities<br />
In addition to the emotional turmoil we have faced this year, we have had to operate within the global financial turmoil that<br />
has caused many businesses and charities to fail. In line with the challenges we were facing, we decided to consolidate our<br />
operations and focus on our core activities, to minimise unnecessary risks and new ventures. Instead, we would deliver what<br />
was expected, confident that we would ride out the storm and still be delivering in the years to come.<br />
The trustees made their plans, concerned at the declining income figures. Volunteers’ time was stretched as their focus often<br />
had to shift away from unpaid charitable work back to their paid jobs. Things were looking grim.<br />
And then, something totally unexpected happened. Just at the darkest hour when all seemed a little hopeless, tales started<br />
to trickle in. Families and volunteers from all over the UK and Europe were all doing fundraising, making personal donations,<br />
supporting the registry, attending the clinic, helping other families, volunteering. Making a difference.<br />
We had set up this charity fully expecting to give our families what they needed. In other words, this was a place where it<br />
was okay to take. But when I happened to glance around the room during a slight lull in the clinic activities, I was struck by<br />
the realisation that there was not a single person who was taking more than they were giving. Quite the reverse. Just at the<br />
time when we individually felt alone, here was the irrefutable evidence that we were not alone anymore. Since its inception<br />
in 2003, I have never seen such a spirit of comradeship and cooperation within the wider BST community as I’ve witnessed<br />
this past year.<br />
And so I thank every one of our families, medical staff, scientists, volunteers and donors. In the following few pages, we’d<br />
like to highlight some of your efforts and show what an amazing difference adding your part has made to the big picture.<br />
Bristol Clinic<br />
The annual <strong>Barth</strong> clinic at the Bristol Royal Hospital for Children<br />
was held on 18th September 2009. A total of 17 affected boys<br />
and young men attended, along with their families. As always,<br />
we strive to make this meeting as informal and informative as<br />
possible. Families get the opportunity to meet each other and<br />
the children have great fun as they literally have the run of the<br />
entire Play Centre for the day. There is also the much valued<br />
chance to have one-to-one appointments with specialists like Dr.<br />
Colin Steward, Dr. Bev Tsai-Goodman and Dr. Ruth Newbury-<br />
Ecob, to name a few. Here you can go over the intricacies of<br />
your child’s care on an individual basis. A full cardiac work-up<br />
is carried out too.<br />
(Cont’d on page 23)<br />
Page 22 <strong>Barth</strong> <strong>Syndrome</strong> Journal ~ <strong>Volume</strong> 9, <strong>Issue</strong> 2<br />
Families gather at the Bristol Clinic.<br />
Photo courtesy of BSTrust ~ 2009
(Cont’d from page 22)<br />
The afternoon sessions this year included a talk from Dr. Ann<br />
Bowron, Senior Biochemist at Bristol Royal Infirmary, about the role<br />
of cardiolipin in <strong>Barth</strong> syndrome.<br />
This was followed by a presentation from Dr. Newbury-Ecob on<br />
the genetics of <strong>Barth</strong> syndrome, as well as prenatal testing options<br />
for <strong>Barth</strong> families who are thinking about having more children. Dr.<br />
Tsai-Goodman then focused on cardiac issues in <strong>Barth</strong> syndrome,<br />
explaining clearly how the heart functions, how a fractional shortening<br />
or ejection fraction is calculated during an echocardiogram, and what<br />
treatments are available for cases of cardiomyopathy.<br />
After an emergency evacuation which caused a certain amount of<br />
disruption with half the group standing on the roadside outside the<br />
hospital and the other half in the Play Centre courtyard, the all clear<br />
signal sounded. The afternoon ended with an open question session<br />
hosted by Dr. Steward during which varied topics were discussed.<br />
Examples include the H1N1 vaccine and signs and symptoms of<br />
sepsis.<br />
The clinic would not be possible without the dedication of many of<br />
the staff at the Bristol Royal Hospital for Children. Special thanks to<br />
Dr. and Mrs. Steward, Dr. Tsai-Goodman and their teams, as well<br />
as staff of the Play Centre.<br />
The clinic is a much needed way of gathering data about all the UK<br />
children and young people. As such, it does mean that the boys have<br />
a hectic schedule of ECGs, echocardiograms, blood tests, physical<br />
examinations, etc. However, our motto (and I know this is echoed<br />
Photo courtesy of BSTrust ~ 2009<br />
by Dr. Steward and the team in charge) is that we have to strike the<br />
right balance and do all we can to make sure that the clinic is first<br />
and foremost an enjoyable day for the children. I know that my boys (Nick, age 11, who has <strong>Barth</strong> syndrome and Matthew,<br />
age 7, who does not) both adore the clinic. They can’t wait to meet the other children again—they love the experience of all<br />
staying overnight in the hotel, enjoying meals and play times together. And a day off school too—bonus! We look forward to<br />
seeing you all again in 2010.<br />
Family Gathering<br />
Photo courtesy of BSTrust ~ 2009<br />
BST paid for a night’s accommodation at a Bristol hotel which allowed families to stay over and enjoy a chance to relax and<br />
unwind over dinner. The following day, we all gathered at a nearby sports club, ordered in traditional fish and chips as well<br />
as a truckload of pizzas, and let the kids get on with playing skittles and pool. We hired in The Playbus—a traditional doubledecker<br />
bus that has been converted into an indoor play paradise for the younger children. The variety of entertainment on<br />
offer, the delicious lunch, and the relaxed and informal atmosphere all made for a valued opportunity to connect, talk and<br />
play, far away from the traditional hospital environment. Many thanks to Sarah and Dave Bull and Tracy Woodward for<br />
organising this enjoyable day.<br />
Boys during the Bristol Clinic and Family Gathering. Photos courtesy of BSTrust ~ 2009<br />
<strong>Barth</strong> <strong>Syndrome</strong> Journal ~ <strong>Volume</strong> 9, <strong>Issue</strong>2 Page 23
A Big Thank You From the <strong>Barth</strong> <strong>Syndrome</strong> Trust…<br />
to all of our supporters, families and friends who have worked hard and imaginatively in difficult times to raise a staggering<br />
total of £32,000 in 2009. Encouraging donors to Gift Aid their donations added another £558. Highlights of events since our<br />
last newsletter in April include:<br />
England<br />
Dave Baber, friend of sisters Sarah Bull and Tracy Woodward, and Les and Maxine Brooker of the White Horse Pub, Hambrook,<br />
Bristol, organised a whole day of fun including dinner, auction, hog roast, raffle, live band and other creative money spinners.<br />
The marquee and tables decorated by Maxine looked beautiful in<br />
BSF blue with vases of exotic flowers. Sarah made a very moving<br />
speech about <strong>Barth</strong> syndrome. Russell Osmond conducted the<br />
Auction which included autographed celebrity football shirts<br />
raising more than £5000. A brave man challenged the crowd to<br />
sponsor a hair shave and lost his locks for well over £300! The<br />
day’s total of £8789 exceeded all expectations. Sarah says, ‘We<br />
can’t thank Dave Baber and the Brookers enough.’<br />
Page 24 <strong>Barth</strong> <strong>Syndrome</strong> Journal ~ <strong>Volume</strong> 9, <strong>Issue</strong> 2<br />
In June, Fiona Carretas and her class at St. Francis of Assisi<br />
School, London, baked and sold cakes to raise £136. Well done<br />
girls and boys.<br />
Russell Osmond auctions autographed celebrity football shirts.<br />
Photo courtesy BSTrust ~ 2009<br />
Terri Allison (with Cynthia Condliffe and other local volunteers)<br />
organised several events, including a Nearly New Sale, a Car<br />
Boot Sale and a Race Night, raising a total of £562 and inspiring others to venture into fundraising.<br />
Sarah Whithorn and her family raised £300 from a tombola, which was fully matched by Barclays Bank.<br />
Another sponsored walk by Roger Atkins raised £100.<br />
Autumn concert by Beech Hill Concert Band.<br />
Photo courtesy BSTrust ~ 2009<br />
Anne Ward held a Coffee Morning, Bring and Buy Sale and Raffle.<br />
She organized an Autumn concert by the Beech Hill Concert Band<br />
which brought music to everyone’s ears and the total profit to<br />
£1241. Thank you to the Basingstoke Unicorn Club for sponsoring<br />
the concert, to Constellation & Matthew Clark, Bristol for the wine,<br />
and St. Bede’s Church.<br />
Friends of Nick, Katie and her mum Laura, once again walked<br />
part of the Test Way and held a garage sale.<br />
Bring and Buy Sales at the homes of Maike Lange and Alan Brown, and their friend Sima Goldsmith raised £468. At William<br />
Cook (Leeds) Ltd., a collection box raised £161. Some box!!<br />
The Greens, our newest family, raised £500 from a bingo session at their home.<br />
A food quiz organised by Gill Amos (whose son has <strong>Barth</strong> syndrome) and her mother, Margaret Amos, raised over £400.<br />
(Cont’d on page 25)
(Cont’d from page 24)<br />
Ireland<br />
£3000 was raised in Celbridge, near Dublin, Ireland in October.<br />
The grandparents of a boy with <strong>Barth</strong> syndrome, Pat and Roy<br />
Craigie, helped by Pat’s friends, hosted an evening salmon<br />
buffet. Val and Hazel Craigie held a coffee morning. These<br />
happy events have raised awareness of <strong>Barth</strong> syndrome in<br />
Ireland, which as far as we know has no diagnosed <strong>Barth</strong><br />
boys.<br />
Jay, Alfie (BTHS) and their friends raise £91 for BST.<br />
Photo courtesy of BSTrust ~ 2009<br />
Scotland<br />
Jay, Alfie (BTHS) and their young friends raised £91 for BST. Ciara (age 8)<br />
sold raffle tickets, and then Ciara, Lauren, Naeve, Shannon, Jay and Alfie<br />
put on a show including dance routines, magic, singing, a comedian, violin<br />
pieces and Jay on the guitar, and raffle. They did everything themselves,<br />
including making tickets and posters, and cakes and lemonade for the<br />
interval.<br />
The parents of Alfie and Jay sent a cheque for £1005, proceeds of another<br />
successful run in the Glasgow Half-Marathon by Tommy, who twisted the<br />
arms of workmates at the Dunlin Alpha Platform, and the selling of hidden<br />
team scratchcards by Allanna. Claire McAteer, Tommy’s cousin, ran the<br />
Glasgow Women’s Road Race in record time in May and the Glasgow<br />
Half-Marathon, raising £190 and awareness at the same time.<br />
BG Group, along with AMEC, Dolphin Drilling and Cape, donated £1400<br />
as part of an accident prevention scheme after workers on an oil platform<br />
in the treacherous North Sea completed an incident-free week. Many thanks to Lawrence Salmon, uncle of two boys with<br />
<strong>Barth</strong> syndrome, who suggested BST.<br />
BAE Systems Prestwick’s Charity Golf Challenge for employees, customers and suppliers raised £650. Thank you to BAE<br />
Systems and John Anderson, friend of an affected family, for nominating BST.<br />
Static Collection Boxes<br />
£2100 was collected by Dave Bull, Pete Craigie, Julie Woolley, Maike Lange, Lorna Moore, Helen Coleman, and Jérôme<br />
Doherty-Bigara.<br />
Celebrations<br />
Thank you for the generous donations from guests at Gil and Rosemary Warner’s wedding, Barry’s birthday bash, and<br />
Michaela’s salsa party.<br />
Standing Orders and Donations<br />
Large single donations from organisations and families in UK and Europe have also given a tremendous boost to the Trust.<br />
Altogether, we have received £5429 from single donations and standing orders since January 2009.<br />
How can we best use this money?<br />
Roy Craigie enjoys the Coffee Morning.<br />
Photo courtesy BSTrust ~ 2009.<br />
The Trustees recently decided that some of the money you’ve raised will be spent on funding an approved scientific grant.<br />
Money will also be made available for targeted doctors, researchers, and families to attend the 2010 International <strong>Barth</strong><br />
<strong>Syndrome</strong> Conference. Many thanks for making this possible.<br />
<strong>Barth</strong> <strong>Syndrome</strong> Journal ~ <strong>Volume</strong> 9, <strong>Issue</strong>2 Page 25
Adieu to our Treasured Treasurer<br />
Jérôme Doherty-Bigara<br />
By Michaela Damin, Chair, <strong>Barth</strong> <strong>Syndrome</strong> Trust (UK & Europe)<br />
Jérôme Doherty-Bigara.<br />
Photo courtesy BSTrust ~ 2009<br />
Page 26 <strong>Barth</strong> <strong>Syndrome</strong> Journal ~ <strong>Volume</strong> 9, <strong>Issue</strong> 2<br />
I first met Jérôme in South Africa in 1987, when we both started university together<br />
and the terrible food in the university accommodation made him flee to our house<br />
where the food was considerably better! His parents knew my parents, and so began<br />
a new generation of friendship, between him and me—one that has survived over<br />
20 years of amicable arguing about every imaginable topic. I am fortunate to count<br />
him as a loyal friend, and even more fortunate to be able to always count on him<br />
whenever I need him.<br />
And so, in 2003, he was the first person I turned to when looking for a Treasurer<br />
for the newly-formed <strong>Barth</strong> <strong>Syndrome</strong> Trust. His qualifications (MBA from Cranfield<br />
School of Management), his experience as a facilitator and consultant in the arena of<br />
global leadership, strategic and change management, team building and development,<br />
post-merger integration and learning expeditions for senior executives, together with<br />
his business acumen, made him an ideal candidate for the job. His love for my son,<br />
Nick, who has <strong>Barth</strong> syndrome, clinched the deal. Here was the ideal mix of someone<br />
who cared deeply about the boys we serve and who had the skills needed to set the<br />
charity on a path to success.<br />
In the past six years, Jérôme has served all our community by stretching everyone to continuously plan, prioritise and then<br />
deliver. In the early days when we were all thinking small and safe, he was already challenging us to think bigger and bolder,<br />
whilst still ensuring the safety of the Charity’s good name and financial standing. Most of the families have never met him—<br />
his role has been a background one and he has never sought any public recognition. However, we all owe him a huge debt<br />
of gratitude for his years of service to BST. Jérôme will continue to serve as an external advisor, but, due to his challenging<br />
work commitments which take him abroad for most of the year, he is stepping down as Treasurer with effect from November<br />
2009. On behalf of our community, I’d like to extend our thanks and gratitude for all his commitment and hard work over the<br />
years. Jérôme hands over the baton to Gemma Wilks, who has already proven to be another excellent candidate for the<br />
role of Treasurer. Gemma, who is a Chartered Financial Accountant, has been a trustee since October 2008, and has been<br />
working alongside Jérôme to date, thus ensuring a seamless handover. Best of luck to you both.<br />
Fantastic Holiday with CHF<br />
By Oliver (17 Years Old), United Kingdom<br />
Oliver (right). Thumbs-up for dirtbuggy driving.<br />
Photo courtesy of CHF ~ 2009<br />
The trip to Portugal organised by the British Children’s Heart Federation<br />
(CHF) during August was amazing! A group of ten teenagers with heart<br />
conditions flew to Portugal for a five-day activity holiday including me, Ollie,<br />
one of the <strong>Barth</strong> boys. With the support given by CHF staff, we were able<br />
to take part in many awesome and physically challenging activities. These<br />
activities included canoeing, kayaking, caving, dirt-buggy driving (fantastic!)<br />
and raft building, plus a range of mini activities.<br />
For someone who has eating difficulties, I found Portuguese food interesting<br />
and tasty—with everything we did working up a great appetite. The best thing<br />
I got out the trip is exactly what I wanted: to go to Portugal to make new<br />
friends, experience independently a beautiful country with beautiful weather,<br />
and sample a little Portuguese culture. During the trip I took some fantastic<br />
pictures of fantastic people to remember a fantastic holiday.<br />
I would like to thank Annick Manton for nominating me for this opportunity<br />
and all the staff at the British Children’s Heart Federation for making it such<br />
an amazing trip.
<strong>Barth</strong> <strong>Syndrome</strong> <strong>Foundation</strong> of Canada<br />
2009 Successes<br />
By Chris Hope, Lois Galbraith and Les Morris, <strong>Barth</strong> <strong>Syndrome</strong> <strong>Foundation</strong> of Canada<br />
This article is being written shortly after Thanksgiving—a<br />
time during which families get together, and a moment is<br />
taken to reflect on our good fortunes. As a <strong>Foundation</strong>, we<br />
take the time to look back and review our accomplishments and<br />
activities over the past few months. When going over our events<br />
we are always astounded at the progress that has been made<br />
and what we have learned in such a short time frame. At this<br />
time last year, the BSFCa executive was planning programs and<br />
actions for 2009. We were, of course, very aware that we would<br />
be facing a difficult year, and we deliberated accordingly. We<br />
knew that although we would be trying to grow the organization,<br />
we would mainly be relying on existing donors and volunteers<br />
to carry us through. We are very fortunate to have loyal and<br />
enthusiastic volunteers who continue to give us their time,<br />
expertise, encouragement and ideas. It is because of those<br />
volunteers and donors, all of our expectations for 2009 were<br />
either met, or greatly exceeded what we predicted.<br />
Spreading the word to the centre of North America<br />
Awareness<br />
BSFCa executive—still smiling at the end of the golf tournament!<br />
One of our ongoing efforts year round is to spread knowledge of the<br />
syndrome wherever we go. Many of our families have taken to carrying<br />
<strong>Barth</strong> bags or <strong>Barth</strong> bears with them when they are shopping, at<br />
restaurants, or on vacation. People always want to know why you are<br />
taking a picture of a bear with a hand knit sweater with a ‘swirly thing’ on<br />
the front. Our volunteers support this project by knitting sweaters with<br />
the <strong>Barth</strong> logo and putting them on teddy bears which we hope people<br />
will take around the world with them.<br />
Cathy Ritter and Chris Hope travelled to Ottawa, Canada for the Canadian Paediatric Society conference. This was a one<br />
day exhibition which included paediatricians in different specialities from all over the country. We have never had such an<br />
enthusiastic and inquisitive crowd come to our booth. Our new brochure was very well received, and many questions were<br />
asked concerning diagnosing and treatment options.<br />
The day after the conference, we met with doctors at the Children’s Hospital of Eastern Ontario, and they assured us that<br />
they would spread the word and keep their eye out for any of the cardinal signs of <strong>Barth</strong> syndrome.<br />
For some time we have wanted to overhaul our website, and we are now happy to report that we are working on the final<br />
design and that the new site should be up and running shortly. We hope that this site will be easy to navigate, provide<br />
benefits to our existing families, and hopefully encourage new families to contact us. We invite everyone to check it out at<br />
www.barthsyndrome.ca.<br />
(Cont’d on page 28)<br />
<strong>Barth</strong> <strong>Syndrome</strong> Journal ~ <strong>Volume</strong> 9, <strong>Issue</strong>2 Page 27
<strong>Barth</strong> <strong>Syndrome</strong> <strong>Foundation</strong> of Canada<br />
2009 Successes<br />
(Cont’d from page 27)<br />
Research<br />
We are pleased to be able to continue funding scientific research grants. This year we have pledged to partially fund a grant<br />
entitled The role of tafazzin in mitochondrial protein import—implications for <strong>Barth</strong> syndrome”. Principle Investigator: Miriam<br />
Greenberg, PhD, Wayne State University Detroit, MI.<br />
Family Services<br />
Our families and affected individuals remain a major focus for us, and we continue to encourage, inform and advocate for<br />
them as much as we can, whenever necessary. Individuals and families have received additional information and brochures<br />
for their Resource Binders, and we hope that they find them positive and practical and that they are able to make good use of<br />
them. We would be happy to receive any feedback and as well encourage recipients to give us ideas for additional topics.<br />
Page 28 <strong>Barth</strong> <strong>Syndrome</strong> Journal ~ <strong>Volume</strong> 9, <strong>Issue</strong> 2<br />
Fundraising<br />
Our fundraising efforts over the year have been very successful again,<br />
exceeding our budget in every regard. We had a great response to our<br />
yearly mail appeal, and people have now started collecting and donating<br />
their coins year round. We have been very fortunate in the ways and<br />
means that donors have found to give to us financially. Some chose to<br />
donate monthly, others hold private fundraisers on our behalf, which<br />
has been everything from collecting bottles to holding parties or silent<br />
auctions, and Cathy Ritter is getting ready for her yearly event selling<br />
poinsettias.<br />
We have been privileged to have several major donors who hold BSFCa<br />
in a special place in their heart and who truly believe in us and our<br />
mission. We are sorry to say that one of those donors recently passed<br />
away. Although he never wanted any acknowledgement, for the past few years whether we needed funds or business advice,<br />
we knew that we had a special friend we could turn to. We are truly grateful for his assistance and for the forthright manner<br />
in which he gave it. During the last few months of his illness, when it could be expected that someone would think only of<br />
himself or his family, our special friend made an extra effort to remember us with another donation. We are truly appreciative,<br />
and will miss our benefactor greatly, not only as a donor, but as a friend.<br />
Planning for 2010<br />
We now have to start thinking about where we want to go and what we want to do for next year. Once again, Les and Lois<br />
have offered the BSFCa executive their home on Lake Kasshabog, ON, Canada for our strategic planning weekend. Susan<br />
Hone will be flying in from Regina, SK, and together we will consider all of our programs and figure out where our focus<br />
should lie in order to best forward our mission.<br />
As well as working on our actual programs and goals, we continue to work behind the scenes organizationally to make sure<br />
we have a strong <strong>Foundation</strong>, which ensures our future. Our special thanks goes out to everyone involved in making the<br />
year 2009 more successful than we could have imagined.
Newsy Notes from our Canadian <strong>Barth</strong> Guys<br />
Every year our Canadian donors and volunteers ask us; “How are your <strong>Barth</strong> guys doing?” We have responded to this in<br />
our Canadian newsletters in a number of ways without detailing medical prognosis.<br />
We polled the guys and they were willing to let people who read the international journal know how they are doing. We<br />
agreed and their comments are noted below.<br />
Sheldon is eight and a half years old and is in Grade 3 at Niagara Public School in Toronto, Ontario. He enjoys all sports,<br />
but particularly likes hockey and soccer. He continues to play the piano well.<br />
Liam is in Grade 8 at Maple Grove School in Yarmouth, Nova Scotia. He is drumming at school and has joined the<br />
Memorial Club—a club where members visit and celebrate with our veterans.<br />
Travis is fourteen and entering high school next year. He continues to play guitar and sounds amazing. Another hobby that<br />
he enjoys is photography. He loves the outdoors and enjoys fishing with his Dad.<br />
Jared is fifteen and in Grade 10 at Campbell Collegiate in Regina, Saskatchewan. His extracurricular activities include<br />
swimming and music therapy. He loves family get-togethers and is the proud Uncle to Abby and Oliver. He was recently in<br />
the local newspaper advocating more family-friendly wheelchair accessibility.<br />
Ryan is currently in Grade 12 at Bear Creek Secondary School in Barrie, Ontario. He enjoys reading and archery. He is<br />
also involved with the ‘Link Club’ (helping junior students adjust to high school) and the ‘Free the Children Club’ at school.<br />
Adam is in his second term at Fleming College, Lindsay, Ontario. Attending school and studying takes up a great deal of<br />
his time, but he still enjoys tinkering with his tractor and car at the cottage and at home.<br />
Robert is currently working at the family business in Mississauga, Ontario. He has masterfully represented the <strong>Barth</strong><br />
<strong>Syndrome</strong> <strong>Foundation</strong> of Canada at a number of events. At the moment his main hobby is writing.<br />
As you can see, it is obvious that our <strong>Barth</strong> guys have a tremendous variety of skills and interests. We wish them well.<br />
Volunteering ...<br />
Bob’s Birthday Bash for <strong>Barth</strong><br />
Bob’s birthday bash for <strong>Barth</strong>.<br />
Photo courtesy of BSFCa ~ 2009<br />
An organization such as the <strong>Barth</strong> <strong>Syndrome</strong> <strong>Foundation</strong> of Canada (BSFCa)<br />
has fantastic and innovative friends and volunteers. They email us with ideas and<br />
their suggestions flow at our volunteer meetings.<br />
This year Bob McJannett, volunteer extra-ordinaire, turned seventy years young<br />
and wanted to have a street party with a live band. He convinced his wife Susan<br />
to pay for the band as her gift to him. He now had the date, the band and a<br />
reason to party with friends.<br />
Bob took care of all of the details, made lists and made sure he invited all of his<br />
neighbours. He was excited about the plans and motivated to help the BSFCa.<br />
Bob insisted that there be no gifts. He did however, on his invitation, ask for<br />
donations to his favourite cause, the <strong>Barth</strong> <strong>Syndrome</strong> <strong>Foundation</strong> of Canada.<br />
The lead singer was George Olliver from the 1960’s band The Mandellas. The<br />
music was upbeat, loud and perfectly suited to Bob’s era of friends. George sang<br />
through three sets and had friends singing along and dancing in the gazebo. He also stayed on at the end of the sets to<br />
socialize with Bob’s guests. It was a memorable evening, and we thank Bob and Susan for their great birthday plans, their<br />
dedication, and of course their generous donation to the BSFCa. Happy Birthday Bob!!<br />
<strong>Barth</strong> <strong>Syndrome</strong> Journal ~ <strong>Volume</strong> 9, <strong>Issue</strong>2 Page 29
BSFCa 2009 Golf Glory and Gains<br />
Loyal golf supporters Lynn Elwood, Henk Alblas,<br />
Beth Conway and Gwen Tjart.<br />
Page 30 <strong>Barth</strong> <strong>Syndrome</strong> Journal ~ <strong>Volume</strong> 9, <strong>Issue</strong> 2<br />
In spite of these days of tight budgets and careful spending, our<br />
BSFCa sponsors and golfers came through for us again.<br />
Our 5 th Annual <strong>Barth</strong> <strong>Syndrome</strong> <strong>Foundation</strong> of Canada Golf<br />
Classic was held on Monday, September 14, 2009. The weather<br />
was sunny and perfect. The golfers were loyal, happy, and<br />
generous. Our hole sponsors numbered thirty and our prizes<br />
donated were in the hundreds. Our major sponsors, Hope Aero,<br />
IQI – Ian Morris and the Buss Megg Society were with us on this<br />
year’s journey again.<br />
The stage was beautifully set for a great day! Our volunteers<br />
arrived full of enthusiasm and verve. We all rolled up our sleeves<br />
and prepared for the day. Robert, one of our <strong>Barth</strong> young men,<br />
made a fine presentation to the club’s tournament director and<br />
the carts were off to their proper holes for a shot gun start. The course was in excellent shape and our golfers were<br />
appreciative. There was much fun and comraderie all day.<br />
A lot of shenanigans went on at the putting contest, and even with the people running the event giving helpful hints, very<br />
few of us were inside the target area or in the hole. As well, the details<br />
surrounding the tail gate party in the parking lot were sketchy enough to<br />
let you know that a good time was had by all involved.<br />
Golfers Ken Weeks, Byron Tyers,<br />
Steve Kemp, and Robert Tyers.<br />
Vicki, Robert and Penny run the<br />
Putting Contest!<br />
The supper and evening program flowed smoothly. People bid on silent<br />
auction items and bought tickets on our two raffles. Each golfer chose<br />
a gift from the prize tables and we presented awards to our sponsors<br />
and some outstanding golfers. The raffle of a Napoleon BBQ was won<br />
by Steve McGill, and the week at a condo in South Carolina was won by<br />
Paul Gilmour.<br />
We thanked everyone again and gave them the date for the 2010<br />
tournament. Special thanks went to Jan Kugelmann, Sharon Olsen and<br />
Joanie Weaver of Merritt Island, Florida for making the long trip to add<br />
sparkle and an international flair to the day.<br />
All the goodbyes, hugs, and yes, the clean up, went smoothly. We were<br />
relieved and ecstatic with the day and with the friendship and support of<br />
golfers, families and friends. Months of work organizing and gathering<br />
had made for a glorious golf day again. The final tally showed that we<br />
raised $25,500.00—our best ever!<br />
Lynn Elwood thanks the golfers for a great day.<br />
Photos courtesy of BSFCa ~ 2009
Sibling Spotlight<br />
Featuring friends from around the globe<br />
Below are the profiles of two of our fantastic <strong>Barth</strong> siblings. It is wonderful to see siblings of those affected with <strong>Barth</strong><br />
syndrome form new friendships among our community of <strong>Barth</strong> Families from around the world. We stongly believe that<br />
these relationships are so meaningful and will be everlasting!<br />
Name: Olivia<br />
Age: 10<br />
Where are you from? I live in Highland Lakes, New Jersey.<br />
What are your hobbies? I enjoy swimming and playing soccer.<br />
Affected siblings? Jack (age 16)<br />
What do you like doing with your brother? Jack loves to cook, and I enjoy<br />
baking chocolate chip cookies with him.<br />
If you met someone who had just found out that their brother had <strong>Barth</strong><br />
2009<br />
syndrome, what would you say to make them feel better? I would tell them<br />
to check out the fundraisers and go to the meetings to learn more about <strong>Barth</strong><br />
syndrome. I would also tell them to be there to help him out since there are things he can’t do like everybody else.<br />
What does BSF mean to you? It helps my family understand what my brother has and what is affecting his heart.<br />
Name: Lauren<br />
Age: 23<br />
Where are you from? I was born in Durban, S. Africa, although I am currently<br />
living in Scottsdale, Arizona.<br />
What are your hobbies? I love reading, and horses have always been my<br />
passion, much to my mother’s dismay. I enjoy yoga and dancing, as well as just<br />
relaxing with friends. I do a lot of studying, although that’s not really a hobby.<br />
Affected sibling? Colin (age 13)<br />
2009 What do you like doing with your brother? Colin LOVES play station, and he is<br />
REALLY good at it. We have a Samuri game we play together, but all of my friends<br />
know that they have the one game rule if ever they visit, that means that Colin gets<br />
them for one game. I love taking him to play miniature golf. It’s such an adventure, and I don’t know who has more fun!!<br />
If you met someone who had just found out that their brother had BTHS, what would you say to make them feel<br />
better? I would say that my little brother is one of the best things to happen to our family. He is such a precious and<br />
loving person! He has taught me so much, and he continues to teach me the older he gets. I think that he has matured a<br />
lot faster than many other boys his age. I would say that all the <strong>Barth</strong> boys are precious blessings, keep them close, learn<br />
from them, and enjoy every moment you have.<br />
What does BSF/BTrust S. Africa mean to you? It is a valuable source of information and support. It provides a<br />
platform for networking, and it lets you know that you’re not alone.<br />
<strong>Barth</strong> <strong>Syndrome</strong> Journal ~ <strong>Volume</strong> 9, <strong>Issue</strong>2 Page 31
Power of Kindness Donor categories are based upon the past 18 months of cumulative giving<br />
PAULA & WOODY VARNER FUND<br />
Stars ($5,000+)<br />
Dillon <strong>Foundation</strong><br />
Yanney, Michael & Dr. Gail<br />
Wilkins, Dr. Michael & Sue<br />
Angels ($1,000—$4,999)<br />
Daugherty, Robert<br />
General Donations ($50—$999)<br />
Acklie Charitable <strong>Foundation</strong><br />
Allman, Peter & Maureen<br />
Allman, Tom & Jane<br />
Anonymous<br />
Basler, Dr. Rod & Debbie<br />
Beynon, Dave & Liz<br />
Bingham, Dr. Dave & Kathy<br />
Buckley, Les & Nancy<br />
Burmeister, Chuck & Marita<br />
Cheatham, Dr. John<br />
Cheatham, Linda<br />
Danziger, Sheldon & Sandra<br />
Desmond, Jerry & Sally<br />
Farrar, Doug & Shawn<br />
Firestone, Dave & Jane<br />
Gelber, Dr. Ben & Elaine<br />
Haessler, John & Nancy<br />
Hedgecock, Norm & Debbie<br />
Henricks, Dr. Bruce & Peg<br />
Hurlbut, Dr. Greg & Sherry<br />
Kenyon, Allan & Barbara<br />
Kiechel, Dr. Fred & Vivian<br />
Lehr Family Trust<br />
Lincoln Community <strong>Foundation</strong><br />
Massengale, Dr. Martin & Ruth<br />
McBride, John & Jean<br />
Minnick, Gates & Daisy<br />
Nelson, Scott & Teri<br />
Norris, Dr. Mike & Mary<br />
Olson, Loy & Julie<br />
Osborne, Dr. Tom & Nancy<br />
Otte, Rob & Carolyn<br />
Pittenger, Jim & Julie<br />
Raun, Robert & Eileen<br />
Rawley, James & Ann<br />
Richards, Matt & Jessica<br />
Roskens, Ronald & Lois<br />
Roth, Dr. Bob & Marcia<br />
Schwab, Dr. Ronald & Diane<br />
Seacrest, Gary & Sue<br />
Seaman, Andrew & Robyn Steely<br />
Sonderegger, Ted & Mary Ann<br />
Statton, Dr. Roy & Marion<br />
Stohs, Dr. Gene & Kris<br />
Stuart, James & Susan<br />
Stuckey, Dennis & Nancy<br />
Swanson, Mary<br />
Tegt, Dr. Tom & Barb<br />
Tinstman, Dale & Jean<br />
Varner, Judy<br />
Varner, Tom & Beth<br />
Whitefoot, Mrs. D. J.<br />
Wiederspan, James & Ann<br />
Wiederspan, Mark & Jess<br />
Wilkins, E. Joanne<br />
Wilkins, Dr. Jerry<br />
Wilkins, Dr. Lee & Kristi<br />
Wilkins, Marilyn<br />
Wilson, Katherine<br />
SCIENCE/MEDICINE FUND<br />
Stars ($5,000+)<br />
Annenberg <strong>Foundation</strong><br />
Barad, Seth & Amy<br />
<strong>Barth</strong> <strong>Syndrome</strong> Trust<br />
McCurdy, Steve & Kate<br />
McKown, Christopher<br />
Sernel, Marc & Tracy<br />
Angels ($1,000—$4,999)<br />
Kirkland & Ellis <strong>Foundation</strong><br />
General Contributions ($50—$999)<br />
American Express Gift Matching<br />
Bill & Melinda Gates <strong>Foundation</strong><br />
Budka, David<br />
Cottrell, George & Candace<br />
Degrandis, Kathleen<br />
Dunn, Mark & Anna<br />
Dunn, Roland & Jean<br />
Dunn, Stephen & Rosette<br />
Flanagan, Barbara<br />
Guardabascio, Mary M.<br />
Harrigan, Timothy & Lori<br />
Higgins, John & Liz<br />
Hitchcock, Nelson<br />
Howe, George<br />
Jelinek, Marylou<br />
Katuramu, Claire<br />
Laperle, Ray & Denise<br />
Laperle, Rick & Ann Marie<br />
Lauretti, Michelle & Carmella<br />
McCurdy, Elizabeth<br />
O’Brien, Dennis B.<br />
O’Brien, Kevin & Linda<br />
O’Connor, Mary<br />
Ouellette, Bob & Michelle<br />
Ouellette, Randy & Trina<br />
Schermerhorn, Mary<br />
Schmidt, Jim<br />
Szczepanek, Janelle<br />
White, James & Lisa<br />
Witzani, Gregor & Sonja<br />
Witzani, Horst<br />
Zehner, Jon & Carlyn<br />
GENERAL FUND<br />
Stars ($5,000+)<br />
American Express Gift Matching<br />
Anonymous<br />
Blumenthal, Richard & Cynthia<br />
Buddemeyer, Randy & Leslie /<br />
CB Richard Ellis 4 th Annual Charity<br />
Golf Tournament<br />
Cusack, Tom & Carrie<br />
Lummis, Bradley & Gaylord<br />
Lummis, William & Dossy<br />
Malkin, Peter & Isabel<br />
Malkin, Scott & Laura<br />
Osnos, Peter & Susan<br />
Pace, Ed<br />
(Lake City International Trucks, Inc.)<br />
Pierson, Dr. Richard & Allene<br />
Pietrini, Andrew & Lauri<br />
(The Lebensfeld <strong>Foundation</strong>)<br />
Russell, Dr. Paul & Allene<br />
The Frill <strong>Foundation</strong><br />
Vaisman, Natan & Beth<br />
Angels ($1,000—$4,999)<br />
Alisberg, Andy & Susan<br />
Alparo, Arlene<br />
American Express PAC Match<br />
Bailey, Clarke & Patricia<br />
Bradley, Robert & Margaret<br />
Brody, D.W. & Tracy<br />
Buly, Dr. Robert & Lynne<br />
Cain, James & Rita<br />
Capotosto, Frank & Marie<br />
Chang, Kim (TKNY Group, Inc.)<br />
Crowley, Peter & Gretchen<br />
Dun & Bradstreet Corp. <strong>Foundation</strong><br />
Epstein, Howard & Robin<br />
Epstein, Paul & Leah<br />
Evoy, Larry & Sally<br />
Fergasm Garment Industries<br />
Floyd, Edmond & Julie<br />
Fowler, David & Susan<br />
Garcia, Linda<br />
Geary, Ann<br />
Gerfen, Henry<br />
Glenn, William<br />
Grose, Madison & Nora<br />
Haines, Dr. Tom<br />
Hart, Dr. Celeste<br />
(North Florida Regional Thyroid Ctr.)<br />
Hart, Dana<br />
Hechinger, Nancy<br />
Heine, Timothy<br />
Hope, Michael & Christine<br />
Isaac, Paul & Karen<br />
Kavetas, Mrs. Harry<br />
Kearns, Richard & Kathleen<br />
Kelly, Al & Peggy<br />
Kugelmann, Peter & Karen<br />
(Premium Assignment Corporation)<br />
Kugelmann, Steve & Jan<br />
Lein, Larry & Jayne<br />
Lummis, Marilyn<br />
Lummis, Richard & Page<br />
Malkin, Elizabeth<br />
Malkin, Louisa<br />
Malkin, Rebecca<br />
Matelich, George & Susan<br />
McCurdy, Steve & Kate<br />
Page 32 <strong>Barth</strong> <strong>Syndrome</strong> Journal ~ <strong>Volume</strong> 9, <strong>Issue</strong> 2<br />
McCurdy, William & Virginia<br />
McFee, Wendy & Jamel Wilson<br />
Michaud, Steven & Yoko<br />
Minor, Walter & Eleanor<br />
(Eleanor Minor Trust)<br />
Pace, Ed (Lake City Idealease, LLC)<br />
Papone, Aldo & Sandra<br />
Quillen, Carol<br />
Randolph, Dr. Peter & Helen<br />
Reece, Joy & Friends<br />
Rodbell, Arthur & Rhoda<br />
Schlame, Dr. Michael & Laili<br />
Schlossberg, Martin<br />
(Castle Hill Apparel, Inc.)<br />
Schwartz, Mark & Marie<br />
Segal, Heather<br />
Taussig, Timothy & Nancy<br />
(Tortimaki <strong>Foundation</strong>)<br />
Wallace R. Schroeder Trust<br />
Welcome, Michael & Carolyn<br />
Winston, Laura<br />
Zelin, Steven & Joy<br />
General Contributions ($50—$999)<br />
AAMCO Transmissions<br />
Abbey National Employment<br />
Services, Inc.<br />
Abbonizio, Leita<br />
Adlam, James & Patricia<br />
Akabas, Seth & Meg<br />
Akabas, Shelley<br />
Alcabes, Elisa<br />
Allen, Dr. Answorth<br />
American Express Global Volunteer<br />
Action Fund Program<br />
Ameriprise Employee Gift Matching<br />
Amlicke, Thomas & Susan<br />
Anderson, Tommy & Allanna<br />
Andersen, Steven & Deborah<br />
Andrews, David & Ellen<br />
Andrews, Sandra<br />
Anonymous<br />
Architects in Association<br />
Asaff, Ernest & Collette<br />
Assured Guaranty Corp.<br />
Azar-Kuhn, Christopher & Laura<br />
Aztec Construction & Mechanical Inc.<br />
Baffa, James<br />
Baffa, Mary<br />
Baffa, Theodore & Rosemary<br />
Bagge, Little & Valerie<br />
(Real Time Lead Generation)<br />
Baker, Ross & Lisa Jones<br />
Ballard, Robert & Stacey<br />
Bancroft, Rev. Francis<br />
Band, David & Rachelle<br />
Banks, Sudeshna<br />
Barlow, Dr. Jeffrey<br />
Barovick, Andrew<br />
Bartels, Kenneth & Jane<br />
Bass, Michael & Ira<br />
Bater, Jennifer N.<br />
Bennis, Lisa<br />
Benson, Jennifer<br />
Berardino, Robert & Martha<br />
Berens, Wayne & Harriet<br />
Berger, Trisanne<br />
Bergquist, Clay & Leslie Tolliver<br />
Berkowitch, Anne<br />
Berland, Jonathan<br />
Berns, Scott<br />
Berry, Rick & Carla<br />
Bez, Ann<br />
Bhattacharyya, Chetna<br />
Bienstock, Gregg & Beth<br />
Bills, Karen<br />
Biscoe, Laurie<br />
Bishop Shanahan High School<br />
Black, Bernice<br />
Black’s Spray Service, Inc.<br />
Blake One Inc.<br />
Blanton, Nancy<br />
Blass, Peter<br />
Block, David & Sharon<br />
Bloomfield, Maryanne<br />
Bob Steele Chevrolet, Inc.<br />
Bogert, Amy & Robert Baldwin<br />
Bogert, Carroll<br />
Bogert, Nicholas & Sally<br />
Bohlen, Lee<br />
Bokert, Susanne<br />
Booker, Walter<br />
Bordovsky, Laddie<br />
Bornstein, David<br />
Bowen, Michael & Valerie<br />
Bradley, Robert Jr.<br />
Brand, Michael<br />
Brause, Cheryl<br />
Brause, David<br />
Braus, Paul<br />
Brefka, Cornelia<br />
Brennan, Michael & Brigid<br />
Brenner, Andrew & Kathleen<br />
Brewer, Gerilyn<br />
Britton, Keith<br />
Brody, David & Jeanne<br />
Brody, Jo<br />
Broglio, Rocco<br />
Brooker, Bradford & Michele<br />
Brooks, Marcus<br />
Brown & Brown, Inc.<br />
Brown, Cary & Tracy<br />
Bruch, Chris<br />
Bucci, Erika<br />
Buddemeyer, Carl & Donna<br />
Burgess, Larry & Charlotte<br />
Burtis, Cleo & James Comerford<br />
Butera, Thomas & Morlene<br />
Byrd, Todd & Michele<br />
Cabot, Dale Pirie<br />
Calhoun, Mike & Angela<br />
Calvo, Jorge & Beatriz<br />
Cammiso, Martin & Sarah<br />
Campbell, Anthony & Debbie<br />
Canales, Robert<br />
Carroll, Robert & Ann<br />
Carvalho, Marlene<br />
Cash, Elise<br />
Cassar, Yves<br />
Cavanaugh, Matthew & Alice<br />
Centore, James & Sherri<br />
Chaffin, Lynda<br />
Chan, Shing<br />
Chastain, Shelley<br />
Cheney, Vernon & Ellen<br />
Chrystal, Peter & Margot<br />
CHS<br />
Chuck’s Lawn Service & Landscaping<br />
Citta, Laura<br />
Clancy, Michael & Elyse Benintende<br />
Clinton, Anita<br />
Close, Gerard & Uyen<br />
Collazzi, J.J. & V.C.<br />
Comer, James<br />
Cominotto, Michael<br />
Concannon, Richard & Maura<br />
Cooper, Steven & Martha<br />
Corbin, Jeffrey (KCSA Worldwide)<br />
Cracchiolo, James & Marilyn<br />
Crawford, Christena<br />
Credi, Quinto & Regina<br />
Crowley, Chuck & Diane<br />
Damin, Marco & Michaela<br />
Dannels, Richard & Therese<br />
Schlossberg, Darian (Darian Group)<br />
Davis, Glenn & Cindy Michalak<br />
Dawn, Nigel<br />
Deland, Dr. Jonathan<br />
Deruvo, Vincent<br />
Despins, Luc & Suzanne Dembroski<br />
DeYoung, Edward & Jill<br />
Dix, Lee & Glenda<br />
DMC Components International LLC<br />
Dobrosky, Thomas & Paula<br />
Doey, Mark<br />
Donnalley, Jennifer<br />
Dorsey, Joe & Sheila<br />
Drake, Bryan<br />
Drake, Frank & Teresa<br />
Drinkwater, Paul & Valerie<br />
Dungan, Robert & Sandy<br />
Dunlap, Jim<br />
Dunn, Mark & Anna<br />
Durand, Emmanuel & Elizabeth<br />
Duran, Lisa<br />
Eidson, Kathleen<br />
Eisenberg, Richard<br />
Eliopoulos, Peter<br />
Engel, Frederick & Ruby<br />
Epstein, Jennifer<br />
Exec/Comm LLC<br />
Fabtrends International Inc.<br />
Fair, Richard<br />
Fairchild, Dewayne & Julie<br />
Falk, Linda<br />
Farrell, Tim & Susan<br />
Fast, Eric & Patricia<br />
Faxon, Kevin & Susan<br />
Feitler, Susan<br />
Fernhoff, Dr. Paul<br />
Fields, Elyse & Peter<br />
Fields, Wendell & Brenda<br />
Fienberg, Meg<br />
Finestead, Dawnene<br />
Fiore, Susan<br />
Firestone, Jim & Ann<br />
Fishell, Gord<br />
Florence, David & Elizabeth<br />
Flores, Elisa<br />
Florida Communities Trust<br />
Floyd, Jane<br />
Flynn, Clare<br />
Foote, Ray & Deidre<br />
Fowler, Dean<br />
Francis, Jeffrey & Judith<br />
Franklin, Peter & Dorothy<br />
Freeman, Bruce<br />
Friedrich, Carl<br />
Fuller, Jim & Barbara<br />
Fuller, Judith & June Simmons<br />
Funk, Thomas & Catherine<br />
Gallaher, Carolyn<br />
Gambino, Thomas & Frances<br />
Gardiner, Timothy & Nancy<br />
Garzona, Maria<br />
Gaynor, Melissa<br />
Geeser, Gerald<br />
Geithner, Peter & Deborah<br />
Gelber, Leslee<br />
Gellman, Richard & Jennifer<br />
Gerfen, Henry<br />
Gerszberg, Richard<br />
Gessler, Barbara & Paul<br />
Schwendener<br />
Gewitz, Dr. Michael & Judy<br />
Gibbs, Richard & Jennifer<br />
Gibson, Donald<br />
Gittelman, Jud & Ann<br />
Glasgow, Walter & Betsy<br />
Glauber, Michael<br />
Goitia, Carmen<br />
Goldenberg, George & Arlene<br />
Golden, Louis<br />
Golden, Richard<br />
Goldfarb, Nancy<br />
Gonzalez, Dr. Iris<br />
Gonzalez, Francy<br />
Goodman, Robert & Carol<br />
Goodman, Bob & Diane<br />
Goodwin, William & Virginia<br />
Gordon, Mitchell & Julie<br />
Goslar, Staci<br />
Gottdiener, Karen<br />
Gottfried, Lauren<br />
Gould, Jan & Michele Lewis<br />
Grace, Ashley<br />
Graham, Megan<br />
Gravitt, Carolyn<br />
Gray, Donna<br />
Greene, Dorothy<br />
Greenberg, Dr. Miriam L.<br />
Greene, Dorothy<br />
Gress, Emil & Natalie<br />
Gruber, Michael<br />
Gudger, Kay<br />
Gunther, Tom & Virginia<br />
Haas, Rod & Wendy<br />
Hagan, Beth<br />
Haines, James & Jill<br />
Haines, Lawrence<br />
Halama, Tracey (Lilburn Elementary)<br />
Hales, Bryan<br />
Hall, Russell & Diane<br />
Hall, Greg<br />
Halloran, John<br />
Harman, Alice & Ginger Blanton<br />
Harman, James & Merlene<br />
Harman, Loyce<br />
Harris, Jesse<br />
Hatch, E.H.<br />
Hazen, Ned & Elizabeth<br />
Heard, Mark & Jean-Marie<br />
Heering, Lori<br />
Henderson, Tawana<br />
Henkel, Lexi<br />
Henkel, Peter & Eleni<br />
Hennessey, Mike & Mary Alice<br />
Henning, Margaret<br />
Henricks, Dr. Bruce & Peggy<br />
Henry, Kevin<br />
Herbsman, Jonas & Lori<br />
Herlihy, Gerard<br />
Herr, Katherine<br />
Higgins, John & Liz<br />
Hillel, Pavel & Susan<br />
Hobbins, Antonia<br />
Holbrook, Frank<br />
(Cont’d on page 33)
Power of Kindness<br />
(Cont’d from page 32)<br />
Holly, Greg & Keli<br />
Holly, Peggy M.<br />
Holly, Ron<br />
Holtzman, Jeffrey & Mari Lee<br />
Hopkins, Madelyn<br />
Horton, Nancy<br />
Hsieh, David<br />
Huang, Pen<br />
Hubby, Pamela<br />
Hughes, Chris<br />
If It’s Water, Inc.<br />
Irving, John & Emily<br />
Island Surf & Skate LLC<br />
Jacobson, Libby<br />
Jacobs, Paul (Penny Plate, Inc.)<br />
Jamson Visions, LLC<br />
Jarrett, Gregory & Catherine<br />
Jensen, Sam & Joanne<br />
Joan, Joan<br />
Jofre, Jaime<br />
Johnson, Malcolm & Deloris<br />
Jones, Edmunds & Associates, Inc.<br />
Joyce, David & Jane<br />
Kaminsky, Gila<br />
Karofsky, Gale<br />
Karofsky, Harvey<br />
Karow, Elyse<br />
Karp, Dr. Harold & Sue<br />
Karp, Joseph<br />
Karp, Matt & Wendy<br />
Katz, Norma<br />
Kautzer, Mike & Kathy<br />
Kauzter Family<br />
Kelly, Raymond & Mary<br />
Kennedy Space Center Visitor<br />
Complex<br />
Kennett, Marie<br />
Kennedy, Yongyong<br />
Kensek, Paul & Florence<br />
Killam, Candace<br />
Kim, Eugene<br />
Kinch, Kerri<br />
Kittleson, Clay & Holly<br />
Klockner, Daniel & Nancy<br />
Kneisley, John & Whitney<br />
Knopping, Jeffrey<br />
Kornweiser, Leslie<br />
Kotch, Brett<br />
Kreisberg, Amy<br />
Kriss, David<br />
Krueger, John<br />
Kugelmann, Warren & Maria<br />
Kugelmann, David<br />
(Kugelmann Land Surveying, Inc.)<br />
Kugelmann, Michael & Catherine<br />
Kuhl, Phillips & Karen<br />
Labar, James & Tori Ann<br />
Lambert, David<br />
Lambert, Lauren<br />
Landa, Dr. Lloyd & Jeanette<br />
Lawson, Richard<br />
Layton, Donald &Betty<br />
Layton Kneece, Charlene<br />
Lederman, Seth & Sarah<br />
Lee, John & Marguerite<br />
Lee, Timothy<br />
Lefever, Ann<br />
Lehrer, Doug & Tracy<br />
Leon, Susan, Andrew, Josh & Ali<br />
(The Leon/Fredman Family)<br />
Leser, Robert & Hilary<br />
Levine, Dr. Arnold<br />
Levinson, Marla<br />
Levy, Joel<br />
Levy, Laurence<br />
Liebenguth, Marilyn<br />
Lind, Michael<br />
Linen, Jonathan<br />
Lipp, Wendy<br />
Lipson, Matthew<br />
Liquidnet Double Down Program<br />
Liscio, Mark & Elizabeth<br />
Loeb, Linda<br />
Long, Wesley & Nancy<br />
Loshe, Thomas & Donna<br />
Lummis, Ghent<br />
Lummis, Ransom<br />
Lupowitz, Kevin<br />
Luttrell, Terri<br />
Lyon, Edward & Michele<br />
Lyon, Robert & Thomas<br />
MacKay, Doug<br />
Magram, Dena<br />
Magraw, Marion<br />
Mancino, Angelo & Rosemary<br />
Mangrum, Janice<br />
Mann, David & Sheila<br />
Marks, Michael & Cynthia<br />
Martin, Terry & Ellen<br />
Mayberry-Jensen, Debby<br />
Mayers, Bruce<br />
Maynard, Dr. Edward & Lisa<br />
McCaughan, Sean & Jeanette<br />
McClintock, Michael & Cynthia<br />
McGlasson, Alisha<br />
McCormick, Katie<br />
McConaughy, James & Beverly<br />
McCurdy, Will<br />
McElroy, John & Susan<br />
McEvily, Michael<br />
McGranahan, Colin & Carrie<br />
McGrail, Sean<br />
McIntosh, William<br />
McRae, Johnice<br />
Meltzer, Anne<br />
Meny, Thomas<br />
Merchant’s Financial Guardian Inc.<br />
Merrin, Seth<br />
Mesh, David & Pat<br />
Met-Con, Inc.<br />
Miceli, Yazmin<br />
Microsoft Matching Gift Program<br />
Mike Erdman Motors, Inc.<br />
Miller, Clyde & Jane<br />
Miller, Jill<br />
Miller, Kirt & Martha<br />
Millman, Paul & Susan<br />
Minniti, Suzanne<br />
Mist Inc.<br />
Mixter, Stephen & Elizabeth<br />
Moffett, Stuart<br />
Moir, John & Connie<br />
Moncure, Suzanne<br />
Monetti, John & Rejane<br />
Montanaro, Louis & Theresa<br />
Morehouse, Clark & Susan<br />
Morgenstern, Marc & Louise<br />
Morley, Dwight<br />
Morrison, Judson & Kimberly<br />
Motion Control Services<br />
Motzkin, Robert & Diane<br />
Mouser, Rebecca<br />
Murphy, Gregory & Therese Carmody<br />
Mutsch, Helen<br />
Myers, Judy & Ira Schwartz<br />
Nabi, Jeffrey<br />
Nachman, David<br />
Nadler, Jeffrey & Joanna<br />
Nauheim, Dr. J.S. & Mae<br />
Neff, George<br />
Newman, Leslie<br />
Nicoll, Thomas & Mary<br />
Northrup, Bruce & Jan<br />
Northland Steel Corp.<br />
O’Connor, Eugene & Julia<br />
O’Connor, Mary<br />
Odouard, Francois<br />
Okoniewski, Joseph & Rita<br />
Oldewage, Kristina<br />
Olson, Erica<br />
Olson, Ken<br />
Olson, Richard & Sharon<br />
O’Neill, Terence & Mary<br />
Orlich, Charles<br />
O’Shaughnessy, Melissa<br />
Owens, Pete & Kathryn<br />
Ozabal, Steven & Susan Montella<br />
Pagano, James & MaryLou<br />
(Fully Involved Lawn Service)<br />
Palmer, Brett & Debbie<br />
Palmer, Kirk & Lori<br />
Pals, Mark<br />
Paradise Ford<br />
Pare’, Terence & Jaclyn<br />
Paret, Francisco<br />
Paridis, Steve<br />
Parlato, Charles & Carolyn<br />
Pascoe, Richard<br />
Patti, Ernest<br />
Patton, Jean<br />
Peck, Gary & Rita<br />
Pepsico <strong>Foundation</strong><br />
Perez, Jennifer<br />
Perlman, Robin<br />
PetSmart<br />
Pfizer Matching Gift Program<br />
Phany Textile Inc.<br />
Phillips, Howard & Julie<br />
Phillips, John<br />
Pierson, Frank & Nancy<br />
Pike Products<br />
Plonsker, Robin<br />
Plumez, Jean Paul & Dr. Jacqueline<br />
Polak, Jennifer<br />
Pope, James & Carole<br />
Purcell, Bob & Jackie<br />
Quentin L. Hampton Assoc. Inc.<br />
Rabidou, Theodore<br />
Rader, Carol<br />
Rader, Stephanie<br />
Ramos, Christina<br />
Randell, Dr. Jay & Amer<br />
Ratner, Ian & Carol<br />
Rauls, Boris<br />
Reid, Colin<br />
Reist, Adam & Dayna<br />
Reynolds, Smith & Hills, Inc.<br />
Richman, Dr. Daniel<br />
Rigney, Elizabeth<br />
Rigney, Joseph<br />
Roach, Timothy<br />
Roberts, John & Betty<br />
Robidoux, Monique<br />
Robinson, Bruce<br />
Rodan, Amnon & Dr. Katie<br />
Rodbell, Gary & Colette<br />
Rodbell, Mitchell & Elizabeth<br />
Rogers, Jimmy & Susan<br />
Rogers, Larry & Cathy<br />
Roggow, Beth<br />
Rohenkohl, David & Sally<br />
Rosen, Amy<br />
Rosen, Marc<br />
Rosenthal, Andrew<br />
Rosenblatt, Laurie<br />
Rosen, Mark<br />
Ross, Jane<br />
Roswick, Diana<br />
Rothschild, Adam & Katherine<br />
Rozbruch, Dr. Robert & Yonina<br />
RUSH Construction, Inc.<br />
Rush, Larry<br />
Russell, Harold & Margo<br />
Russell, Paul & Sara<br />
Rutkowski, Anne<br />
Ryan, Sean<br />
Sadler, Evelyn<br />
Sampson, Dr. Hugh & Anne<br />
Sanford, Colin & Katherine<br />
Sarkozi, Paul & Jill<br />
Sarno, Carmine<br />
Sauer, Bob & Liz<br />
Scanlan, Erik & Valerie<br />
Schifman, Jennefer<br />
Schlapak, Sonja<br />
Schoen, Christopher & Melissa<br />
Schrader, Cherie<br />
Schreiber, Ed & Mary Ann<br />
Schumacher, Dr. Cajsa<br />
Schweitzer, George & Kate<br />
Sedefian, Lynda<br />
Segal, Anne<br />
Segal, Benjamin & Jacqueline<br />
Sellet, Rebecca<br />
Selman, Jack<br />
Seltzer, Danielle<br />
Seltzer, Stu<br />
Sernel, Marc & Tracy<br />
Shaw, Dolores<br />
Shearer, William & Datsy<br />
Shepard Cox, Douglas<br />
Sherer, Peter & Marilu<br />
Shmerler <strong>Foundation</strong> Inc.<br />
Shmerler, William<br />
Silberman, Cindy<br />
Silverthorn, Eugene & Florence<br />
Simantob, Shahariar<br />
Singer, Scott & Mary Jo Romano<br />
Skinner, Adrienne<br />
Skinner, Merna<br />
Sleeper, Emmy Lou<br />
Slone, Tara<br />
Smith, Jeff & Judi<br />
Smith, James & Susan<br />
Snedeker, Robert & Frances<br />
Solomon, Linda<br />
Solomon, Mike<br />
Sorrow, Stacey<br />
Spangle, Laurie<br />
Spotts, Dr. Jules<br />
Standley, Burgess & Caroline<br />
Stanton, Gregory & Maria<br />
Staub, Amy<br />
Steigerwald, Ronald & Victoria<br />
Steinberg, Dr. Barry<br />
Steinberg, Jack<br />
Sterling, James<br />
Stern, Lauren<br />
Stevenson, Robert & Sharon<br />
Stone, Timothy<br />
Storm, Michael & Pam<br />
Strain, Donna<br />
Straits, Brian & Jan<br />
Strauss, Judith<br />
Strohl, Linda<br />
Stuckey, Scott & Nancy<br />
Stundis, Linda<br />
Subervi, Ann<br />
Sullivan, John<br />
Supinski, Pam<br />
Tanner, Jason<br />
Tavernaro, Petra<br />
Taylor, Jeanne<br />
Taylor, Sheri<br />
Tedona, Sylvia<br />
Telles, Michael & Michelle<br />
Terry, Glenn & Donna<br />
Texas Department of Public Safety<br />
Texline Inc.<br />
Tezel Investments Inc.<br />
Tillinghast, Pamela<br />
Timler, Jeff<br />
Toth, Dr. Matthew & Marilyn<br />
Tse, Linnet<br />
Tseng, Huei Chen<br />
Tuggle, Kara<br />
Tulchin, David & Nora<br />
Tunguz, Stefan<br />
Unger, Karl & Evelyn<br />
United Space Alliance<br />
United Stage Associates, Inc.<br />
Utopia Communications, Inc.<br />
Van Duyne, David & Jeannette<br />
Van Loc Inc., DBA Kings Duck Inn<br />
Van Valen, Edward & Jeanne<br />
Varnish, Electa<br />
Vasandani, Ravi<br />
Vasudevan, Sridhar<br />
Vetter, Bryson<br />
Victor, Robert<br />
Viebranz, Elaine<br />
Vietoris, Paola<br />
Vogt, Jerre<br />
Waldfogel Berg, Barbra<br />
Wallerstein, Diana<br />
Ward, Jodi<br />
Waterman, Christopher & Marcy<br />
Watson, Duane & Jeri<br />
Watt, Gill (Bloomers, Inc.)<br />
Watt, Richard<br />
Weaver, Joan<br />
Webster, Nancy<br />
Weiner, Steve<br />
Weinstock, Leonard & Marilyn<br />
Weinstein, Wendy<br />
Weltich, Steve & Sharon<br />
Weltlich, Stephen & Sharon<br />
Weltlich, Robert & Dolores<br />
Wencil, Donald<br />
Wenglin, Dr. Barry & Barbara<br />
Werner-O’Brien, Claire<br />
Westerman, Ralph & Eleanor<br />
Westover, Kelly<br />
Wharton, Philip & Philippa<br />
Wilkov, Marcy<br />
Williamson, Richard & Estelle<br />
Williams, Gilbert<br />
Williams, Melisa<br />
Williams, Kathleen & Suzi Anderson<br />
Wilmer, Jorge<br />
Wilson, Joan & Kerry<br />
Winoker, Sidney & Irma<br />
Winters, Ian<br />
Wit, David<br />
Wittmayer, Brian & Mary Lynn<br />
Witzani, Horst<br />
Wojcik, Debbie<br />
Wolff, Patricia<br />
Wong, Kityen<br />
Woodson, Joan<br />
Wynia, Brent & Shari<br />
Yocum, Ed & Lucy<br />
Young, William & Phyllis<br />
Yudell, Marvin & Barbara<br />
Yudell, David & Tracy<br />
Zackel, Paul & Jacqueline<br />
Zerilli, Sam & Eileen<br />
Zierk, Tom & Gail<br />
Zurbrick, Patricia<br />
TIME AND ADVICE<br />
4imprint<br />
Abrams, Esq., Beth Polner<br />
Acehan, Dr. Devrim<br />
Addington, Nicole<br />
Agellon, Dr. Lou<br />
Aikens, Sharonda<br />
Andersen, Harold<br />
Anderson, Wayne & Suzie<br />
Aprikyan, Dr. Andrew<br />
Ashenfarb, David<br />
(Schall & Ashenfarb)<br />
ASI Production Services, Inc.<br />
Avery, RD, LD/N, CDE, Rhonda<br />
Azar, Laura<br />
Baffa, James<br />
Baffa, Kevin<br />
Baffa, Mary<br />
Baffa, Rosemary<br />
Barad, Seth<br />
<strong>Barth</strong>, Dr. Peter<br />
Bazinet, Dr. Richard<br />
Bellamy, Amanda<br />
Bennett, Dr. Michael<br />
Benni, Dr. Paul<br />
Beulow, Nancye<br />
Beyer-Lead, Rick<br />
Bogert, Nick<br />
Bogert, Sally<br />
Bolyard, RN, Audrey Anna<br />
Bowen, Michael<br />
Breitinger, PA, Petar<br />
Brevard County Fire Rescue and<br />
Local 2969<br />
Brody, DW<br />
Brody, Tracy<br />
Bryant, Dr. Randall M.<br />
Buddemeyer, Andrew<br />
Buddemeyer, Ben<br />
Buddemeyer, Leslie<br />
Buddemeyer, Randy<br />
Bullitt, Dr. Esther<br />
Bungert, Dr. Jorg<br />
Butera, MSW, CSW, MEd, Jaclyn<br />
Byrne, Dr. Barry J.<br />
Cade, Dr. Todd<br />
Calhoun, Angie<br />
Calhoun, Michael<br />
Callahan, Lynn<br />
Carboni, Dr. Michael<br />
Carlson, Tony<br />
Carney, Janet<br />
Carter, Kate Casidine<br />
Chapman, Sharon<br />
Chase, Kevin<br />
Christie, Dr. William W.<br />
Clark, Amanda (Photographer)<br />
Clay, Donna<br />
Claypool, Dr. Steven M.<br />
Corley, Marion<br />
Cortez, Anne<br />
Cox, Dr. Gerald F.<br />
Crain, Carrie<br />
Croxton, MSN, ARNP, CDE, Linda<br />
Dale, Dr. David<br />
Damin, Michaela<br />
Dannels, Dick<br />
Dannels, Terry<br />
Davies, Rob<br />
Davis, Anastasia<br />
Day, Dr. Jane<br />
De Decker, Dr. Rik<br />
Develle, B.J.<br />
DiMauro, Dr. Salvatore<br />
Drake, Brian<br />
Drake-Miller, Erin<br />
Drinkwater, Paul<br />
Duncan, CPA, Peter<br />
Dunn, Anna<br />
Dunn, Mark<br />
Edwards, MS, RD, LD/N, Penny<br />
Porch<br />
Elwood, Lynn<br />
Epand, Dr. Richard<br />
Epstein, Paul<br />
Fairchild, Julie<br />
Fan, Dr. Yuxin<br />
Fleischmann, Dr. Bernd<br />
Flotte, Dr. Terry<br />
Floyd, Julie<br />
Flynn, Clare<br />
Fortier, Jodie<br />
Foxon, Kim<br />
Funke, Dr. Birgit<br />
Gagnon, Lou Ann<br />
Stenson, Martin & Marie (Cont’d on page 34)<br />
<strong>Barth</strong> <strong>Syndrome</strong> Journal ~ <strong>Volume</strong> 9, <strong>Issue</strong>2 Page 33
Power of Kindness (Donations are based upon the past 18 months of giving)<br />
TIME & ADVICE (cont’d)<br />
Galbraith, Lois<br />
Ganz, Doug<br />
Gaudin, Herve<br />
Gerszberg, Rich<br />
Gill, Carrie<br />
Gonzalez, Dr. Iris L.<br />
Gottlieb, Dr. Eyal<br />
Gravitt, Carolyn<br />
Greenberg, Dr. Miriam L.<br />
Griffi n, Kim<br />
Groft, Dr. Steven<br />
Haines, Dr. Thomas<br />
Hammond, Dr. H. Kirk<br />
Han, Dr. Xianlin<br />
Hancock, Lynn<br />
Hardison, Haille & Jodi<br />
Hare, Craig A.<br />
(Paramedic EMS Division Chief)<br />
Harford, Greg<br />
Harford, Larry<br />
Harley, Elma Rhea<br />
Harrington, Hon. James<br />
Hastings, Dr. Rob<br />
Hatch, Dr. Grant M.<br />
Hauff, BSc, Kristin<br />
Hawkins, Lawton<br />
Hay, Vickie<br />
Heal, Elisabeth<br />
Henry, Anne<br />
Henry, Dr. Susan<br />
Higgins, John<br />
Higgins, Liz<br />
Hintze, Audrey<br />
Holly, Keli<br />
Hope, Chris<br />
Hope, Michael<br />
Hope, Robert<br />
Horwitz, Dr. Marshall S.<br />
Houtkooper, Dr. Riekelt<br />
Jacob, BS, Marni L.<br />
Jensen, Dr. Robert E.<br />
Jensen, Joanne<br />
Jofre, Jaime<br />
Johnson, Kristen<br />
Johnson, Linda<br />
Johnston, Dr. Jennifer J.<br />
Joshi, Amit S.<br />
Juico, MA, MEd, Eileen Q.<br />
Kacinski, Debbie<br />
Kainer, Daryl<br />
Karp, Matt<br />
Karp, Wendy<br />
Kearns, Richard<br />
Kelley, Dr. Richard I.<br />
Kennedy, Yongyong<br />
Kern, MGC, Rebecca L.<br />
Khuchua, Dr. Zaza<br />
Kiebish, Dr. Michael<br />
King, OTR/L, Bobbie<br />
King, Lynn<br />
Kirwin, Susan<br />
Koehler, Dr. Carla<br />
Knopping, Jeff<br />
Kobayashi, Dr. Toshihide<br />
Koehler, Dr. Carla<br />
Kowalcyzk, Randy<br />
Kropp, Susan<br />
Kugelmann, Dave<br />
Kugelmann, Jan<br />
Kugelmann, Lee<br />
Kugelmann, Mike<br />
Kugelmann, Steve<br />
Kuijpers, Dr. Taco<br />
Kulik, Dr. Willem<br />
Laird, Doug<br />
Lamoia, Michelle<br />
Lane, Anna<br />
Lawson, Lee Ann<br />
Layton, Alanna<br />
Leça, Dr. Ana<br />
Lenaz, Dr. Giorgio<br />
Levin, Dr. Gail<br />
Lewin, Dr. Alfred S.<br />
Lewis, Julie<br />
Lipshultz, Dr. Steven E.<br />
Lochner, Joyce<br />
Lohmann, Jessica<br />
Lowe, DHSc, PT, Jodi<br />
Lucas, Kendal (Lucas Productions)<br />
Lummis, Ghent<br />
Lyall, Doug<br />
Lynn, John<br />
Madgett, Roberts, Marlowe, Jackson<br />
& Associates<br />
Maisenbacher, MS, CGC, Melissa<br />
Malhotra, Dr. Ashim<br />
Mancino, Angelo<br />
Mancino, Rosemary<br />
Mann, Allen & Rosa<br />
Mann, David<br />
Mann, Shelia<br />
Mannella, Dr. Carmen<br />
Manton, Annick<br />
Margossian, Dr. Renee<br />
Martin, Joy<br />
Martins, Raquel<br />
Maruno, Yuriko<br />
Matthias, Linda<br />
Mazzocco, Dr. Michele<br />
McConaughy, Jim & Bev<br />
McCormack, Joe<br />
McCurdy, Eliza<br />
McCurdy, Kate<br />
McCurdy, Steve<br />
McCurdy, Will<br />
Merlo, Lisa<br />
Miller, Cheryl<br />
Miller, Travis<br />
Miller-Drake, Erin<br />
Mitchell, Jim<br />
Mock, Kim<br />
Monahan, Laurie<br />
Monahan, Tom<br />
Monetti, Kayleigh<br />
Montenero, Theresa<br />
Moore, Lorna<br />
Moore, Nigel<br />
Morava, Eva<br />
Morris, Les<br />
Morris, Travis<br />
Murphy, Tony<br />
Nackashi, Dr. John<br />
Niemeyer, Christine (Ruppshirts)<br />
Odouard, Francois<br />
Odouard, Reshmi<br />
Oldewage, Casie<br />
Oldewage, Scott<br />
Olson, Adam<br />
Olson, Brandy<br />
Olson, Dean<br />
Olson, Maria<br />
Olson, Richard<br />
Olson, Sharon<br />
Olson, Tina<br />
Olson, Tom<br />
Osnos, Susan<br />
Pace, Ed<br />
Pagano, Jim<br />
Pagano, MaryLou<br />
Perkins, Phyllis<br />
Pilitowski, Bill & Colleen<br />
Pinellas County EMS / Fire Admin.<br />
Pittman, Jackie<br />
Pruett, Debbie<br />
Pu, Dr. William<br />
Radar, Stephanie<br />
Radosta, Lori<br />
Randell, Amer<br />
Redfearn, ARNP, Sharon<br />
Reece, Bryce<br />
Reimschisel, Dr. Tyler<br />
Ren, Dr. Mindong<br />
Reppen, Heather<br />
Rigney, John<br />
Rivers, Nina<br />
Rivkees, Dr. Scott A.<br />
Rizzo, Dr. William<br />
Roberts, Dr. Amy<br />
Rodbell, Gary<br />
Rodbell, Colette & Julia<br />
Rosen, Alan<br />
Rosen, Amy<br />
Rosenshine, MA, MEd, Jonathan<br />
Roubos, Mr. & Mrs.<br />
Ryan, Jane<br />
St. Amant, MS, Jay<br />
Saroyan, Dr. John<br />
Schantzen, Sandy<br />
Schlame, Dr. Michael<br />
Schrader, Cherie<br />
Schroeder, Raghad<br />
Schroeder, Wallace & Alexis<br />
Segal, Heather<br />
Segui, Damaris<br />
Sernel, Marc<br />
Sexton, ARNP, Terry<br />
Shenkman, Dr. Elizabeth<br />
Sheppard, Jamie<br />
Sherbany, Dr. Ariel<br />
Sherman, Cathy<br />
Sherwood, Dr. Geoff<br />
Page 34 <strong>Barth</strong> <strong>Syndrome</strong> Journal ~ <strong>Volume</strong> 9, <strong>Issue</strong> 2<br />
Shih, Dr. Renata<br />
Shirley, Alan & Denise<br />
Shum, Bill & Ginny<br />
Smith, Deborah<br />
Smithson, Sarah<br />
Smolski, Ed<br />
Smoot, Dr. Leslie<br />
Snyder, Floyd<br />
Sparagna, Dr. Genevieve<br />
Spencer, Dr. Carolyn T.<br />
Spinella, Dr. Giovanna<br />
Stanford, RN, Dianne<br />
Stehno-Bittel, Dr. Lisa<br />
Steinberg, Jack<br />
Steward, Dr. Colin G.<br />
Stewart, Mr. & Mrs. Michael<br />
Strain, Frasier & Donna<br />
Straits, Brian & Jan<br />
Strauss, Dr. Arnold<br />
Stutts, Lauren<br />
Sullivan, Melissa<br />
Sunstar Emergency Medical<br />
Services of Pinellas County, FL<br />
Sydnor, Laurie<br />
Taegtmeyer, Dr. Heinrich<br />
Tarnopolsky, Dr. Mark<br />
Telles, Michael<br />
Telles, Michelle<br />
Thomas, Carla<br />
Thompson, Angie<br />
Thompson, Erin<br />
Thorpe, Jeannette<br />
Towbin, Dr. Jeffrey A.<br />
Townsend, Esq., Colyn<br />
Tsai-Goodman, Dr. Beverly<br />
Tunguz, Stephen<br />
Tweed, Scott<br />
van der Riet, Hans<br />
VanDuyne, PT, PCS, Jeannette<br />
Vancura, Dr. Ales<br />
Vanderwall, Mitch (WebEx)<br />
Varner, Judy<br />
Vaz, Dr. Frederic M.<br />
Vogt, Jerre<br />
Vosgien, Don<br />
Walker, Gena<br />
Wanders, Dr. Ronald J. A.<br />
Watson, MPT, Karin Colby<br />
Weltlich, Dodie<br />
Whebble, Pam<br />
White, Marty<br />
Whitney, Scott (Bright Circle Inc.)<br />
Wicker, Judy<br />
Wiederspan, Jessica<br />
Wiggins, Mark<br />
Wilkins, Dr. Michael<br />
Wilkins, John<br />
Wilkins, Sue<br />
Wilks, Carol<br />
Williams, Kathy<br />
Wise, Lisa<br />
Wood, Robin<br />
Wroe, Martha<br />
Zaragoza, Dr. Michael<br />
Zarate, Mimi<br />
Zhang, Shali<br />
Zurbick, Patty<br />
(UK & Europe)<br />
Friends of BSTrust<br />
2009<br />
Allison, Terri<br />
Amey, Mandy<br />
Amos, Gill<br />
Anderson, John<br />
Anderson, Tommy, Allanna & Family<br />
Antomarchi, Eva & Nicolas<br />
Armada Platform Oilrig<br />
Ashworth, Maggie<br />
Atkins, Roger<br />
Baber, Dave<br />
BAE Systems Prestwick<br />
Baird, Emjie<br />
Baird, Susan<br />
Baker, Mr. N.<br />
Barclays Bank<br />
Barker, Mr. and Mrs. J.<br />
Barratt, Linda<br />
<strong>Barth</strong> <strong>Syndrome</strong> <strong>Foundation</strong> Canada<br />
<strong>Barth</strong> <strong>Syndrome</strong> <strong>Foundation</strong>, Inc.<br />
<strong>Barth</strong> Trust of South Africa<br />
Basingstoke Unicorn Club<br />
Basingstoke Voluntary Services<br />
Bat and Ball Club<br />
Baxter-Smith, John & Valerie<br />
Baxter-Smith, Oliver<br />
Beattie, Trevor & Breda<br />
Beech Hill Concert Band<br />
Bilson, Karen<br />
Bird, Karen<br />
Birds of Derby<br />
Bolhuis, Drs.<br />
Bowron, Ann<br />
Bracken, Charles<br />
Brewer, Richard<br />
Brooker, Les & Maxine<br />
Brown, Laura<br />
Bull, David & Sarah<br />
Bull, Lyn<br />
Callcutt, John & Tina<br />
Carretas, Ana & Roig, Richard<br />
Carretas, Fiona<br />
Carvalho, Marlene<br />
Children’s Heart Federation<br />
Clements, Claire<br />
Clothier, Mrs. S. L.<br />
Coleman, Michael & Helen<br />
Coleman, William<br />
Condliffe, Cynthia<br />
Constellation & Matthew Clark, Bristol<br />
Craigie, Alan & Rita<br />
Craigie, Arthur<br />
Craigie, Hazel<br />
Craigie, Ivan & Marie<br />
Craigie, Pat & Roy<br />
Craigie, Pete<br />
Craigie, Val<br />
Crawford, Eleanor & Michael<br />
Crismann, Seb & Janique<br />
Critchlow, Mr. & Mrs. D. H.<br />
Damin, Claudio & Mandy<br />
Damin, Marco & Michaela<br />
Damin, Nori<br />
Danks, Mrs. C.<br />
Deacon, John & Rosemary<br />
Delaney, Helen<br />
Derbyshire Dales District Council<br />
Staff (Environmental Health)<br />
Derbyshire Dales District Council<br />
Staff (IT Section)<br />
Doherty-Bigara, Jérôme<br />
Doherty-Bigara, Rosemay<br />
Donovan, Maggie<br />
Dorset Fairway Lodge<br />
Dunlin Alpha Oilrig<br />
Durocher-Yvon, Dominique<br />
Easterbrook, Ralph & Isabel<br />
Eastman, Elaine and the Play Leaders<br />
Farrell, Joy<br />
Farrow, Rachel<br />
Favero, Marco<br />
Fioole, Johan<br />
Fox, Sandra<br />
Frost, Gemma<br />
Frost, Mike & Angie<br />
Gilmour, Lisa<br />
Goldsmith, Sima<br />
Grant, Alec & Catherine<br />
Green, Jerry & Suzy<br />
Guimarey, Ilda<br />
Hamilton, David<br />
Harbidge, Hannah<br />
Hastings, Dr. Rob<br />
Henly, Martin<br />
Hill, Bev<br />
Holmes, Pam<br />
Johnson, Katie & Libby<br />
Jones, Andy<br />
Jones, Charlotte<br />
Kemp, Helena<br />
Keogh, Jimmy & Hazel<br />
KPMG, Southampton<br />
Kulik, Dr. Willem<br />
Lallemand Egueur, Madeleine<br />
Lange, Maike & Brown, Alan<br />
Lawrence, Sheila<br />
Lemettre, Isabelle<br />
Loo, Jo & Albert van<br />
Loyal Manor Lodge<br />
Mackenzie, Jane<br />
Manton, Greg<br />
Manton, Joan<br />
Manton, Rob & Annick<br />
Manton, Sonia<br />
McAteer, Claire<br />
McClean, Pam & Derek<br />
McNally, Leigh<br />
McSkimming, M.<br />
Mead, Mr. & Mrs. R.<br />
Moore, Miriam<br />
Moore, Mr. & Mrs. R. M.<br />
Moore, Nigel & Lorna<br />
Moran, John & Marie<br />
Murphy, Liz<br />
Nash, Alan & Lesley<br />
Newbury-Ecob, Dr. Ruth<br />
Niblett, Martin & Louise<br />
Oakley Tennis Club<br />
Oram, Richard & Heather<br />
Osmond, Russell<br />
Overton Methodist Church<br />
Parker, Mrs. L.<br />
Parker, Mr. T. W.<br />
Pettigrew, Veronica<br />
Play Centre Staff at Bristol Royal<br />
Hospital for Children<br />
Powell, Bob<br />
Powell, Caleb & Gill<br />
Powell, Mr. & Mrs. D.<br />
Rose, Kerry-Ann<br />
Salmon, Lawrence<br />
Salmon, Robertina<br />
Saltford Masonic Lodge<br />
Schlapak, Gregor & Sonja<br />
Scott, AC<br />
Shackleford, Jo<br />
Shackleton, John & Helen<br />
Sharpe, Charlotte & Nick<br />
Simpson, Sue<br />
Sinanon, Ken & Margaret<br />
Smith, Mrs. J.<br />
Smith, Rose<br />
Spence, Mrs. E.<br />
Speroni-Collu, Susanna<br />
St. Bede's Church, Basingstoke<br />
St. Francis of Assisi School, London<br />
St. Mary’s Church, Overton<br />
Steadman, Mrs. J.<br />
Steward, Dr. Colin & Christine<br />
Stewart, Glenna<br />
Stone, Dr. Janet<br />
Stuart, Stella<br />
Swennen, Erik & Veerle<br />
Sykes, Sandy<br />
Tsai-Goodman, Dr. Bev<br />
Wanders, Dr. Ronald<br />
Ward, Barry & Anne<br />
Waters, Alex<br />
Weybrook Park Golf Club<br />
White, George<br />
Whitehorse Pub, Hambrook<br />
Whithorn, Sarah<br />
Wilkinson, David<br />
Wilks, Gemma<br />
Williams, Michael & Mary<br />
Withey, Sue<br />
Witzani, Horst & Linde<br />
Woodhead, Sue<br />
Woodward, Tracy & Ian<br />
Woodworth, Rod<br />
Woolley, Scott & Julie<br />
Wythe, Anthony
Power of Kindness<br />
Friends of <strong>Barth</strong><br />
1507386 Ontario Ltd.<br />
Adams, Lynda<br />
Adams, Phillip<br />
Adams, Terry<br />
Alblas, Henk<br />
Allen, James<br />
Allison, Vicky<br />
AME Association of Ontario<br />
Anderson, Allanna<br />
Anderson, Tommy<br />
Annis, Bob<br />
Annis, John<br />
Atkinson, Jim<br />
Babcock, Cheryl<br />
Babcock, Mike<br />
Barrett, Margaret<br />
Barrett, Paul<br />
Baxter, Arthur<br />
Baxter, Katherine<br />
Baxter, Russ<br />
Beck, Helen<br />
Bentley, Thomas<br />
Bereczky, Andrea<br />
Best, Cathy<br />
Best, Rance<br />
Bingham, Joan<br />
Blake, Al<br />
Blake, Joanne<br />
Bonneau, Lynda<br />
Bonneau, Rodger<br />
Bowen, Shelley<br />
Boyle, John<br />
Bridger, Brian<br />
Bridger, Dianne<br />
Bridger, Marj<br />
Bridger, Wayne<br />
Briggs, Bob<br />
Briggs, Jessie<br />
Brightling, Nicole<br />
Browman, Stan<br />
Brown, Derek<br />
Brown, Tony<br />
Buddemeyer, Randy<br />
Burmania, Owen (Sunsational<br />
Landscapes Inc.)<br />
Burmania, Sharon<br />
Burns, Stuart<br />
Butler, Gayle<br />
Byers, Cal<br />
Carter, Bob<br />
Carter, Paul (Adapt Aviation Inc.)<br />
Castelli, Adam<br />
Chambers, Ronald<br />
Chen, Bill<br />
Chen, Chee<br />
Cherniak, Benjie<br />
Cherniak, Morris<br />
Cherniak, Andy<br />
Chiufo, Fred<br />
Christian, Doug<br />
Christie, Garnrel<br />
Christie, John<br />
Clark, Cathleen<br />
Clark, Patricia<br />
Clark, Steve<br />
Clelland, Bill<br />
Clifford, Francis (Havelock Foodland)<br />
Coates, Ryan<br />
Collard, Margaret<br />
Collard, Rex<br />
Connell, Margaret<br />
Connell, Percy<br />
Conway, Beth<br />
Cook, Bob<br />
Cooper, Cindy<br />
Cooper, Gerry<br />
Cooper, James<br />
Cooper, Jocelyn<br />
Cooper, Rick<br />
Coulson, Steve (Peel Plastic<br />
Products Ltd.)<br />
Country Meat Cuts<br />
Cowan, Andrew<br />
Cox, Dr. Gerald<br />
Cox, Patty<br />
Cummings, Jim<br />
Cummings, Marie<br />
Daley, Arnold<br />
Daley, Jin<br />
Damin, Michaela<br />
Davidson, Alex<br />
Davidson, Bonnie<br />
Davies, Barbara<br />
Davies, Diane<br />
Davison, Marilyn<br />
Davison, Paula<br />
Day, Margaret<br />
Deconcilys, Ron (Air Partners Inc.)<br />
Deforest, Ina<br />
Deforest, Warren<br />
Deforest, Wilmer<br />
Deligiannis, Dino<br />
Demick, Diane<br />
Dickie, Galen<br />
Dickie, Paul<br />
Dickinson, Steve<br />
Dickson, Bel<br />
DiDiodato, Giulio<br />
Diorkin, Gary (Peel Scrap metal<br />
Recycling Ltd.)<br />
Dodds, Richard<br />
Dodds, Wilma<br />
Domenichia, Vince<br />
Doucet, Eldon<br />
Douse, Dave<br />
Dove, Judy<br />
Dove, Randy<br />
Downer, Jeremy<br />
Duclos, Bev<br />
Ebata, Lyle<br />
Edington, Ave<br />
Edington, Barry<br />
Ellis, Chris<br />
Elwood, Bryan<br />
Elwood, Lynn<br />
Elwood, Rick<br />
Elwood, Susan<br />
English, Chris<br />
Ernst, Gabriele<br />
Ernst, Kevin<br />
Field, Bob<br />
Fink, Penny<br />
Fisher, Ken (Goodrich Corporation)<br />
Fitzpatrick, Ann Marie<br />
Fitzpatrick, William<br />
Fortner, James<br />
Frankel, Andy<br />
Fuller, Wayne<br />
Galbraith, Lois<br />
Garment, Linda<br />
Garment, Philip<br />
Gerow, Ron<br />
Gilman, Jeanette<br />
Gilmour, Paul (Precision Aero)<br />
Ginou, Jonathan<br />
Gordon, Dave<br />
Gordon, Karen<br />
Gould, David<br />
Gregorio, John<br />
Grenc, Cathy<br />
Grenc, Ed<br />
Hackett, Doug<br />
Hackett, Muff<br />
Haggett, John<br />
Haggett, Judy<br />
Hamilton, AnnMarie<br />
Hamilton, Reg<br />
Hamilton, Sam<br />
Hammand, Jean<br />
Harris, Sandy<br />
Havelock Belmont Library Board<br />
Hay, Symon<br />
Henders, Nola<br />
Henderson, Kim (Designer Trophies)<br />
Hill, John<br />
Hill, Richard<br />
Hintze, Audrey<br />
Hocevar, Frank<br />
Hocevar, Helen<br />
Hollands, Dennis<br />
Hollands, Joan<br />
Holmes, John<br />
Hone, Barbara<br />
Hone, Chris<br />
Hone, Susan<br />
Hope Aero<br />
Hope, Christine<br />
Hope, Harry<br />
Hope, Helen<br />
Hope, Michael<br />
Hope, Robert<br />
Hope, Ruth<br />
Hope, Terry<br />
Howard, Sharon<br />
Huggett, Fred<br />
Hughes, Cathy<br />
Hughes, Ronn<br />
Humphries, Jack<br />
Humphries, Jan<br />
Jeffery, Elaine<br />
Jeffery, Jeff<br />
JonesDeslauriers<br />
Kadoguchi, Lily<br />
Kahn, Dave<br />
Kahn, Vera<br />
Kahn, Stephen<br />
Karolidis, Paul<br />
Kemp, Bill<br />
Kennington, Paul<br />
King, Mark<br />
Kraljic, Andrew<br />
Kraljic, Tom<br />
Kritschgau, Rick (Vision 2000)<br />
Krueger, Rudy<br />
Kugelmann, Jan<br />
Kugelmann, Steve<br />
Kuzik, Brian<br />
Labelcraft Products Ltd.<br />
Lacroix, Guy<br />
Lajoie, Doris<br />
Lamb, Doug (Exceltec Auto Services)<br />
Lamorie, Bruce<br />
Lavigne, Carol<br />
Law, Nancy<br />
Lawson, Alexander S.<br />
Leckey, Jim<br />
Leighton, Jeannine<br />
Leighton, Keith<br />
Lerner, Mitchell<br />
Lindsay, Sue<br />
Lister, Verna<br />
Loos, Ann<br />
Loos, David<br />
Lunn, Joan<br />
Lyall, Doug<br />
MacDonald, Carol<br />
MacDonald, Fred<br />
MacDonald, Jody<br />
Macewan, Alistair<br />
Macewan, Chris<br />
MacLaughlin, Sean<br />
Magill, Cheryl<br />
Malcolm, Diane<br />
Malcolm, Martin<br />
Malfara, Frank<br />
Mann, James<br />
Mann, Ruth<br />
Marantet, Don<br />
Marchetti, Greg<br />
Marshall, Jason<br />
Martin, Martina<br />
Martin Laneau, Liz<br />
Masterson, Moira<br />
Matthews, Dave<br />
McCurdy, Kate<br />
McCurdy, Steve<br />
McDowell, Bill<br />
McDowell, Joan (J & B Customs<br />
Brokers Ltd.)<br />
McGill, Steve<br />
McGlaughlin, Larry<br />
McGuinness, Celia<br />
McJannett, Bob<br />
McJannett, Susan<br />
McKee, Jim<br />
McLaren, Sheila<br />
McLean, Cheryl<br />
McLean, Greg<br />
McMullen, Jack<br />
Megelink, Jasper<br />
Megelink, Mary<br />
Mill, Dawn<br />
Mill, Marvin<br />
Millar, Margaret<br />
Millar, Ronald<br />
Miller, Pickard Law<br />
Milne, Peter<br />
Milor, Michael<br />
Minaloff, Nick<br />
Mitchell, Eric<br />
Moffat, Heather<br />
Moher, Jan<br />
Monopoli, Domonic<br />
Moore, Walt<br />
Morris, Cherniak<br />
(Donations are based upon the past 18 months of giving)<br />
Morris, Dianna<br />
Morris, Elsie<br />
Morris, Ian<br />
Morris, Les<br />
Morris, Pam<br />
Moss, Don<br />
Mullen, Leatta<br />
Nagel, Erna<br />
Nagel, Siegfried<br />
Nagel, Thomas<br />
Naraine, Christopher<br />
Newfeld, Beth<br />
Newfeld, Jeff<br />
Noddle, Bev<br />
Noddle, Norm<br />
Novopharm Ltd.<br />
Nutkevith, Pearl<br />
Olorenshaw, Neil<br />
Olson, Sharon<br />
O’Reilly, Patrick<br />
Osnos, Susan<br />
Paczkowski, Taisia<br />
Pape, Aaron<br />
Parbtani, Anwar<br />
Patrick, Barbara<br />
Pearce, Bev<br />
Pearce, William<br />
Perkins, Phyllis<br />
Petzel, Sandra<br />
Piasecki, Jon<br />
Pike, Pam<br />
Pitkethly, Maureen<br />
Poitras, Mike<br />
Poitras, Sandi<br />
Poole, Bob (Aerostructural Inc.)<br />
Post, Michael<br />
Power, Carolyn<br />
Primus, Chris<br />
Prodan, Magda<br />
Pudsey, George<br />
Quackenbush, Carolyn<br />
Quackenbush, Earl<br />
Ramsey, Heather<br />
Raymond, David<br />
Raymond, Lila<br />
RBC <strong>Foundation</strong><br />
Richardson, Trevor<br />
Ritter, Carole<br />
Ritter, Cathy<br />
Ritter, Chris<br />
Ritter, Ryan<br />
Roberts, Marlowe, Jackson, Jackson<br />
& Assoc.<br />
Robinson, Elizabeth<br />
Ross, Barbara<br />
Roy, Larry<br />
Rutenberg, Karen<br />
Sawh, Harold<br />
Sawh, Mark<br />
Sawh, Ruby<br />
Scherzl, Dawn<br />
Schuller, Dana<br />
Schuller, Dennis (Aviall Canada Ltd.)<br />
Scothorn, Pam<br />
Scott, Bob (Mx Aerospace Services Inc.)<br />
Scott, Debi<br />
Sedefi an, Lynda<br />
Segal, Donna<br />
Segal, Joseph<br />
Segal, Mona<br />
Selkirk, Kim<br />
Sernel, Marc<br />
Shaw, Blaine (Mississauga Classic<br />
Car Club)<br />
Shepherd, Jamie (Tangle Creek<br />
Golf Club)<br />
Shere, Gloria<br />
Shiff, Lorne<br />
Sirota, Laizer<br />
Sisson, Lindsay<br />
Sisson, Paula<br />
Skopit, Barry<br />
Slepkov, Martin<br />
Sluzar, Mark<br />
Smith, Chris (Tim Horton’s Havelock ON)<br />
Smith, Christine (Tim Horton’s Havelock<br />
ON)<br />
Smith, Glenn<br />
Smith, Ralph<br />
Smith, Ted<br />
Smolic, Alex<br />
Smolic, Joe<br />
Snowden, Mary<br />
Stabb, Susan<br />
Staring, A<br />
Stevens, Mike<br />
Stewart, Cal (Havelock Foodland)<br />
Stitt, Barabara<br />
Stoll, Brian<br />
Stolpmann, Peter<br />
Storey, Bob<br />
Storey, Dick<br />
Storey, Janis<br />
Stundis, Linda<br />
Sturrup, Penny<br />
Swinimer, Bill<br />
T.D. Bank Havelock ON<br />
Taylor, Dean<br />
Taylor, Jeff<br />
Taylor, Susan<br />
Thomas, Brian<br />
Thompson, Mark<br />
Thorpe, Jeannette<br />
Timleck, Barry<br />
Tjart, Gwen<br />
Tjart, Richard<br />
Tocco, Carolyne (Great West Life)<br />
Tomlinson, Annette<br />
Tomlinson, Brian<br />
Tomlinson, Danny<br />
Tomlinson, Shannon<br />
Torrence, Erin<br />
Toth, Matt<br />
Trillium Gift of Life Network<br />
Trim, Norma<br />
Trim, William<br />
Tsilikas, Alana (Kelsey’s 7066)<br />
Tsilikas, George<br />
Turner, David<br />
Turner, Ron<br />
Tweed, Scott (Medical Post)<br />
Tyers, Byron<br />
Tyers, Robert<br />
Vanderwater, Barbara<br />
Vassallo, Jonas<br />
Vella, Betty<br />
Vincent, Suzanne<br />
Warren, Janet<br />
Warren, Jerry<br />
Weaver, Joan<br />
Webb, Lindsay (Lindsay Webb<br />
Financial Inc.)<br />
Weeks, Jane<br />
Weeks, Ken<br />
Welch, Dave<br />
Weller, Sharon<br />
White, Leone<br />
Whitmore, Connie<br />
Wild, John<br />
Wilkins, Dr. Mike<br />
Wilkins, Sue<br />
Wilks, Bruce<br />
Wilks, Carol<br />
Wilks, Dennis<br />
Wilks, Helen<br />
Wiwcharyk, Lubow<br />
Wuthrich, Grace<br />
Wuthrich, Grace<br />
Yorston, Diane<br />
Yorston, Robert<br />
Young, Dorothy<br />
Young, Lenore<br />
Young, Ron<br />
Zavitz, Peter<br />
<strong>Barth</strong> <strong>Syndrome</strong> Journal ~ <strong>Volume</strong> 9, <strong>Issue</strong>2 Page 35
<strong>Barth</strong> <strong>Syndrome</strong> <strong>Foundation</strong><br />
675 VFW Parkway #372<br />
Chestnut Hill, MA 02467<br />
Phone: (617) 469-6769<br />
Facsimile: (617) 849-5695<br />
E-mail: bsfinfo@barthsyndrome.org<br />
Website: www.barthsyndrome.org<br />
<strong>Barth</strong> syndrome (BTHS; OMIM #302060) is a rare but serious genetic disorder primarily affecting males.<br />
It is found worldwide and is caused by a mutation in the tafazzin gene (TAZ, also called G4.5), resulting<br />
in an inborn error of lipid metabolism. Though not always present, cardinal characteristics of this multisystem<br />
disorder often include combinations and varying degrees of:<br />
Photo courtesy of Amanda Clark ~ 2008<br />
WHAT IS BARTH SYNDROME?<br />
Cardiomyopathy<br />
(Dilated with variable myocardial hypertrophy, sometimes with left ventricular<br />
noncompaction and/or endocardial fibroelastosis)<br />
Neutropenia<br />
(Chronic, cyclic, or intermittent)<br />
Under-developed skeletal musculature and muscle weakness<br />
Growth delay<br />
(Abnormal growth pattern, similar to but often more severe than constitutional<br />
growth delay)<br />
Exercise intolerance<br />
Cardiolipin abnormalities<br />
3-methylglutaconic aciduria<br />
(Typically 5 to 100-fold increased)<br />
Saving lives through education, advances in treatment, and finding a cure for <strong>Barth</strong> syndrome.